MFS
MCID: MRF001
MIFTS: 73

Marfan Syndrome (MFS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Marfan Syndrome

About this section

Aliases & Descriptions for Marfan Syndrome:

Name: Marfan Syndrome 52 11 71 23 48 24 25 54 70 12 50 38 39 13 35 68
Marfan's Syndrome 11 25 27
Mfs 25 54 70
Marfanoid Hypermobility Syndrome 68
 
Contractural Arachnodactyly 48
Marfan Syndrome Type 1 70
Mfs1 70

Characteristics:

Orphanet epidemiological data:

54
marfan syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

64
marfan syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: although intrafamilial clinical variability can be extensive, marfan syndrome shows high clinical penetrance...


Classifications:



External Ids:

OMIM52 154700
Disease Ontology11 DOID:14323
ICD1030 Q87.4, Q87.40
ICD9CM32 759.82
MeSH39 D008382
NCIt45 C34807
Orphanet54 ORPHA558
UMLS via Orphanet69 C0024796
MESH via Orphanet40 D008382
ICD10 via Orphanet31 Q87.4
MedGen37 C0024796

Summaries for Marfan Syndrome

About this section
MedlinePlus:38 Marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Marfan Syndrome, also known as marfan's syndrome, is related to heritable thoracic aortic disease and mass syndrome, and has symptoms including Array, Array and Array. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways are NTHi-Induced Signaling and Validated transcriptional targets of AP1 family members Fra1 and Fra2. Affiliated tissues include heart, bone and eye, and related mouse phenotypes are respiratory system and muscle.

Genetics Home Reference:25 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

NIH Rare Diseases:48 Marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). it is caused by mutations in the fbn1 gene, which provides instructions for making a protein called fibrillin-1. marfan syndrome is inherited in an autosomal dominant pattern. at least 25% of cases are due to a new (de novo) mutation. treatment is based on the signs and symptoms in each person. last updated: 1/26/2017

OMIM:52 A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical... (154700) more...

UniProtKB/Swiss-Prot:70 Marfan syndrome: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

Wikipedia:71 Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are... more...

GeneReviews for NBK1335

Related Diseases for Marfan Syndrome

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Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 202)
idRelated DiseaseScoreTop Affiliating Genes
1heritable thoracic aortic disease29.5FBN1, TGFB1
2mass syndrome28.6ACTA2, AGTR1, BMP6, CBS, COL1A2, DCN
3neonatal marfan syndrome12.1
4marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections11.8
5loeys-dietz syndrome 211.4
6mycosis fungoides11.2
7connective tissue disease11.1
8contractural arachnodactyly, congenital11.0
9pneumothorax, primary spontaneous10.9
10homocystinuria, b6-responsive and nonresponsive types10.9
11shprintzen-goldberg syndrome10.7
12ectopia lentis, isolated, autosomal recessive10.7
13aortic aneurysm, familial thoracic 110.7
14microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma10.7
15ectopia lentis, familial10.7
16lujan-fryns syndrome10.7
17megalocornea 1, x-linked10.7
18megalocornea10.7
19mounier-kuhn syndrome10.7
20pectus carinatum10.7
21marfan lipodystrophy syndrome10.7
22aneurysm10.5
23aortic aneurysm10.3
24linear focal dermal elastosis10.3ELN, FBN1
25infective dermatitis associated with htlv-110.3TGFBR1, TGFBR2
26pyoderma gangrenosum-acne-suppurative hidradenitis syndrome10.3DCN, FBN1
27acute sensory ataxic neuropathy10.3ELN, FBN1
28acute pure sensory neuropathy10.3ELN, FBN1
29dyslexia 610.3FBN1, FBN2
30myopathy-growth delay-intellectual disability-hypospadias syndrome10.3ELN, FBN1
31febrile ulceronecrotic mucha-habermann disease10.2FBN1, TGFBR1, TGFBR2
32adenosquamous breast carcinoma10.2FBN1, FBN2, TGFBR2
33geleophysic dysplasia 210.2COL1A2, FBN1, TGFB1
34adult-onset distal myopathy due to vcp mutation10.2ELN, FBN1
35enamel hypoplasia cataract hydrocephaly10.2TGFB1, TGFBR1, TGFBR2
36inflammatory breast carcinoma10.2TGFBR1, TGFBR2
37sclerocornea10.2COL1A2, FBN1, FBN2
38agraphia10.2BMP6, COL1A2, FBN1
39intellectual developmental disorder with persistence of fetal hemoglobin10.2TGFBR1, TGFBR2
40noonan syndrome 410.2MMP2, TGFB1
41schwannomatosis10.1ELN, FBN1, MMP2
42herpes simplex10.1COL1A2, ELN, TGFB1
43neuropathy, hereditary sensory and autonomic, type vi10.1ACTA2, FBN1, TGFBR2
44aortic disease10.1
45respiratory syncytial virus infectious disease10.1BMP6, TGFB1, TGFBR1
46hemolytic uremic syndrome, atypical 510.1FBN1, FBN2, LTBP2
47stevens-johnson syndrome/toxic epidermal necrolysis10.1BMP6, DCN, TGFB1
48aneruptive fever10.1FBN1, FBN2, LTBP2
49hereditary night blindness10.1BMP6, DCN, TGFB1
50apert syndrome10.1BMP6, DCN, TGFB1

Comorbidity relations with Marfan Syndrome via Phenotypic Disease Network (PDN):


Left Ventricular Outflow Tract Obstruction

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to marfan syndrome

Symptoms & Phenotypes for Marfan Syndrome

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Symptoms by clinical synopsis from OMIM:

154700

Clinical features from OMIM:

154700

Human phenotypes related to Marfan Syndrome:

 54 64 (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus carinatum64 54 Very frequent (99-80%) HP:0000768
2 striae distensae64 54 Very frequent (99-80%) HP:0001065
3 arachnodactyly64 54 Very frequent (99-80%) HP:0001166
4 disproportionate tall stature64 54 Very frequent (99-80%) HP:0001519
5 slender build64 54 Very frequent (99-80%) HP:0001533
6 pes planus64 54 Very frequent (99-80%) HP:0001763
7 spontaneous pneumothorax64 54 Very frequent (99-80%) HP:0002108
8 dilatation of the ascending aorta64 54 Very frequent (99-80%) HP:0005111
9 chronic fatigue64 54 Very frequent (99-80%) HP:0012432
10 narrow face64 54 Frequent (79-30%) HP:0000275
11 visual impairment64 54 Frequent (79-30%) HP:0000505
12 myopia64 54 Frequent (79-30%) HP:0000545
13 dental crowding64 54 Frequent (79-30%) HP:0000678
14 pectus excavatum64 54 Frequent (79-30%) HP:0000767
15 ectopia lentis64 54 Frequent (79-30%) HP:0001083
16 lens subluxation64 54 Frequent (79-30%) HP:0001132
17 joint hypermobility64 54 Frequent (79-30%) HP:0001382
18 mitral valve prolapse64 54 Frequent (79-30%) HP:0001634
19 sleep disturbance64 54 Frequent (79-30%) HP:0002360
20 scoliosis64 54 Frequent (79-30%) HP:0002650
21 high, narrow palate64 54 Frequent (79-30%) HP:0002705
22 protrusio acetabuli64 54 Frequent (79-30%) HP:0003179
23 arthralgia/arthritis64 54 Frequent (79-30%) HP:0005059
24 increased axial globe length64 54 Frequent (79-30%) HP:0007800
25 lens luxation64 54 Frequent (79-30%) HP:0012019
26 malar anomaly54 Frequent (79-30%)
27 dural ectasia64 54 Frequent (79-30%) HP:0100775
28 inguinal hernia64 54 Occasional (29-5%) HP:0000023
29 cleft palate64 54 Occasional (29-5%) HP:0000175
30 dolichocephaly64 54 Occasional (29-5%) HP:0000268
31 retrognathia64 54 Occasional (29-5%) HP:0000278
32 micrognathia64 54 Occasional (29-5%) HP:0000347
33 downslanted palpebral fissures64 54 Occasional (29-5%) HP:0000494
34 glaucoma64 54 Occasional (29-5%) HP:0000501
35 retinal detachment64 54 Occasional (29-5%) HP:0000541
36 osteopenia64 54 Occasional (29-5%) HP:0000938
37 osteoporosis64 54 Occasional (29-5%) HP:0000939
38 muscular hypotonia64 54 Occasional (29-5%) HP:0001252
39 congestive heart failure64 54 Occasional (29-5%) HP:0001635
40 emphysema64 54 Occasional (29-5%) HP:0002097
41 hemoptysis64 54 Occasional (29-5%) HP:0002105
42 meningocele64 54 Occasional (29-5%) HP:0002435
43 aneurysm of an abdominal artery64 54 Occasional (29-5%) HP:0002636
44 kyphosis64 54 Occasional (29-5%) HP:0002808
45 limited elbow movement64 54 Occasional (29-5%) HP:0002996
46 skeletal muscle atrophy64 54 Occasional (29-5%) HP:0003202
47 spondylolisthesis64 54 Occasional (29-5%) HP:0003302
48 myalgia64 54 Occasional (29-5%) HP:0003326
49 cachexia64 54 Occasional (29-5%) HP:0004326
50 mitral valve calcification64 54 Occasional (29-5%) HP:0004382
51 pulmonary artery dilatation64 54 Occasional (29-5%) HP:0004927
52 ascending aortic dissection64 54 Occasional (29-5%) HP:0004933
53 arterial dissection64 54 Occasional (29-5%) HP:0005294
54 aortic tortuosity64 54 Occasional (29-5%) HP:0006687
55 attention deficit hyperactivity disorder64 54 Occasional (29-5%) HP:0007018
56 hypoplasia of the iris64 54 Occasional (29-5%) HP:0007676
57 flat cornea64 54 Occasional (29-5%) HP:0007720
58 open bite64 54 Occasional (29-5%) HP:0010807
59 descending aortic dissection64 54 Occasional (29-5%) HP:0012499
60 tall stature64 HP:0000098
61 narrow palate64 HP:0000189
62 high palate64 HP:0000218
63 malar flattening64 HP:0000272
64 long face64 HP:0000276
65 deeply set eye64 HP:0000490
66 cataract64 HP:0000518
67 esotropia64 HP:0000565
68 exotropia64 HP:0000577
69 flexion contracture64 HP:0001371
70 overgrowth64 HP:0001548
71 mitral regurgitation64 HP:0001653
72 aortic regurgitation64 HP:0001659
73 tricuspid valve prolapse64 HP:0001704
74 pes cavus64 HP:0001761
75 hammertoe64 HP:0001765
76 pneumothorax64 HP:0002107
77 aortic root dilatation64 HP:0002616
78 ascending aortic aneurysm64 HP:0002631
79 aortic dissection64 HP:0002647
80 kyphoscoliosis64 HP:0002751
81 genu recurvatum64 HP:0002816
82 premature osteoarthritis64 HP:0003088
83 decreased muscle mass64 HP:0003199
84 reduced subcutaneous adipose tissue64 HP:0003758
85 incisional hernia64 HP:0004872
86 premature calcification of mitral annulus64 HP:0005136
87 medial rotation of the medial malleolus64 HP:0008132
88 abnormality of malar bones64 HP:0012369

MGI Mouse Phenotypes related to Marfan Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2DCN, FBN1, FBN2, LTBP2, MMP2, TGFB1
2MP:00053697.8ACTA2, COL1A2, DCN, FBN1, FBN2, MMP2
3MP:00053907.8BMP6, COL1A2, DCN, FBN1, FBN2, MMP2
4MP:00053857.3ACTA2, AGTR1, COL1A2, FBN1, FBN2, LTBP2
5MP:00053917.1ACTA2, DCN, EGF, FBN2, LTBP2, MMP2
6MP:00053786.8AGTR1, BMP6, COL1A2, DCN, EGF, FBN1

Drugs & Therapeutics for Marfan Syndrome

About this section

Drugs for Marfan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AtenololapprovedPhase 4, Phase 3, Phase 210429122-68-72249
Synonyms:
( inverted question mark)-Atenolol
(+-)-4-(2-Hydroxy-3-isopropylaminopropoxy)phenylacetamide
(+-)-Atenolol
(+/-)-4-[2-Hydroxy-3-[(1-methylethyl)amino]propoxy]benzeneacetamide
(1)-2-(4-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
(?)-Atenolol
1-p-Carbamoylmethylphenoxy-3-isopropylamino-2-propanol
2-(4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl)acetamid
2-(4-{2-hydroxy-3-[(propan-2-yl)amino]propoxy}phenyl)acetamide
2-(p-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
2-[4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl]acetamide
2-[4-({2-hydroxy-3-[(1-methylethyl)amino]propyl}oxy)phenyl]acetamide
2-[4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl]acetamide
2-{4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl}acetamide
29122-68-7
4-(2-Hydroxy-3-((1-methylethyl)amino)propoxy)benzeneacetamide
4-[2 -Hydroxy-3 -(isopropylamino)-propoxy]phenylacetamide
4-[2'-Hydroxy-3'-(isopropylamino)propoxy]phenylacetamide
60966-51-0
A 7655
A7655_SIGMA
AC-11142
AC1L1D99
AC1Q1QBX
AKOS005111050
ARONIS23884
Acetamide,2-(p-(2-hydroxy-3-(isopropylamino)propoxy)phenyl)
Aircrit
Alinor
Altol
Anselol
Antipressan
Apo-Atenolol
Atcardil
Atecard
Atehexal
Atenblock
Atendol
Atenet
Ateni
Atenil
Atenol
Atenol 1A Pharma
Atenol 1A pharma
Atenol AL
Atenol Acis
Atenol Atid
Atenol CT
Atenol Cophar
Atenol Fecofar
Atenol GNR
Atenol Gador
Atenol Genericon
Atenol Heumann
Atenol MSD
Atenol NM Pharma
Atenol Nordic
Atenol PB
Atenol Quesada
Atenol Stada
Atenol Tika
Atenol Trom
Atenol Von CT
Atenol acis
Atenol ct
Atenol von ct
Atenol-Mepha
Atenol-Ratiopharm
Atenol-Wolff
Atenol-ratiopharm
Atenolin
Atenolol (JAN/USP)
Atenolol (JP15/USP/INN)
Atenolol [USAN:BAN:INN:JAN]
Atenolol [USAN:INN:BAN:JAN]
Atenololum
Atenololum [INN-Latin]
Atenomel
Atereal
Aterol
BB_SC-1519
BIM-0050109.0001
BRD-A20239487-001-02-5
BRN 2739235
BSPBio_002915
Betablok
Betacard
Betasyn
Betatop GE
Betatop Ge
Blocotenol
Blokium
CCRIS 4196
CHEBI:2904
CHEMBL24
CID2249
CPD000036768
Cardaxen
Cardiopress
Corotenol
Cuxanorm
D001262
D00235
DB00335
DivK1c_000057
Duraatenolol
Duratenol
 
EINECS 249-451-7
EINECS 262-544-7
EU-0100121
Evitocor
Farnormin
Felo-Bits
HMS1569L13
HMS1921H09
HMS2090I19
HMS2092D19
HMS500C19
HSDB 6526
Hipres
Hypoten
I01-3572
ICI 66,082
ICI 66082
ICI-66082
ICI66082
IDI1_000057
Ibinolo
InChI=1/C14H22N2O3/c1-10(2)16-8-12(17)9-19-13-5-3-11(4-6-13)7-14(15)18/h3-6,10,12,16-17H,7-9H2,1-2H3,(H2,15,18)
Internolol
Jenatenol
Juvental
KBio1_000057
KBio2_001844
KBio2_004412
KBio2_006980
KBio3_002415
KBioGR_000790
KBioSS_001844
L000116
LS-28557
LS-9707
Lo-Ten
Lo-ten
Lopac0_000121
Loten
Lotenal
MLS000069622
MLS001066372
MLS001074163
MLS001304038
MolPort-001-792-717
Myocord
NCGC00015007-07
NCGC00015007-13
NCGC00024566-03
NCGC00024566-04
NCGC00024566-05
NCGC00024566-06
NCGC00024566-07
NINDS_000057
Neatenol
Normalol
Normiten
Noten
Oprea1_448775
Oraday
Ormidol
Panapres
Plenacor
Premorine
Prenolol
Prenormine
Prinorm
SAM002564193
SMR000036768
SPBio_001482
SPECTRUM1501127
STK528649
Scheinpharm Atenol
Seles Beta
Seles beta
Selobloc
Serten
Servitenol
Spectrum2_001411
Spectrum3_001448
Spectrum4_000435
Spectrum5_001509
Spectrum_001364
Stermin
Tenidon
Teno-Basan
Teno-basan
Tenobloc
Tenoblock
Tenolol
Tenoprin
Tenoretic
Tenormin
Tenormin (TN)
Tenormine
Tenormine [French]
Tensimin
Tensotin
Tredol
UNII-50VV3VW0TI
Unibloc
Uniloc
Vascoten
Vericordin
Wesipin
Xaten
atenolol
benzeneacetamide, 4-[2'-hydroxy-3
duratenol
2
PerindoprilapprovedPhase 4, Phase 347107133-36-8, 82834-16-0107807
Synonyms:
(2S)-2-[(1S)-1-Carbethoxybutylamino]-1-oxopropyl-(2S,3aS,7aS)-perhydroindole-2-carboxylic acid
(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxopentan-2-yl]amino]propanoyl]-2,3,3a,4,5,6,7,7a-octahydroindole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
82834-16-0
82834-16-0 (Parent)
99149-83-4
AC1L32S9
ACEON
Aceon
BIDD:GT0786
BRD-K92731339-227-02-3
BSPBio_003206
C07706
C19H32N2O5
CHEBI:8024
CHEMBL1581
CID107807
Coverene Cor
Coverex
Coversum
Coversyl
D03753
DB00790
DW-7950
 
KBio2_002494
KBio2_005062
KBio2_007630
KBio3_002426
KBioGR_001190
KBioSS_002502
LS-178402
MLS002154153
McN-A-2833
MolPort-005-935-307
PERINDOPRIL
Perindopril (USAN/INN)
Perindopril Erbumine
Perindoprilum
Prestarium
S-9490
SED-9490
SMR001233453
SPBio_001216
Spectrum2_001108
Spectrum3_001683
Spectrum4_000775
Spectrum5_001689
Spectrum_001948
cpd with unspecified MF
ethyl N-{(2S)-1-[(2S,3aS,7aS)-2-carboxyoctahydro-1H-indol-1-yl]-1-oxopropan-2-yl}-L-norvalinate
3
VerapamilapprovedPhase 413052-53-92520
Synonyms:
(+-)-Verapamil
(+/-)-VERAPAMIL
(1)-3-(3,4-Dimethoxyphenyl)-6-((5,6-dimethoxyphenethyl)methylamino)hexane-3-carbonitrile
2-(3,4-Dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methyl-amino]-2-(1-methylethyl) pentanenitrile
2-(3,4-dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methylamino]-2-propan-2-ylpentanenitrile
2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile
5-((3,4-Dimethoxyphenethyl)methylamino)-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
5-[(3,4-Dimethoxyphenethyl)methylamino]-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
52-53-9
56949-77-0
AB00053495
AC-16016
AC1L1DV5
Akilen
Anpec
Apo-Verap
Arpamyl
Arpamyl LP
BPBio1_000268
BRD-A09533288-001-02-7
BRD-A09533288-003-05-6
BSPBio_000242
BSPBio_001513
BSPBio_002358
Berkatens
Bio-0754
Bio1_000425
Bio1_000914
Bio1_001403
Bio2_000233
Bio2_000713
C07188
C27H38N2O4
CCRIS 6749
CHEBI:9948
CHEMBL6966
CID2520
CP-16533-1
CP-165331
Calan
Calan SR
Calan sr
Calaptin
Calaptin 240 SR
Calcan
Cardiabeltin
Cardiagutt
Cardibeltin
Cardioprotect
Caveril
Civicor
Civicor Retard
Coraver
Cordilox
Cordilox SR
Corpamil
Covera-HS
Covera-Hs
Covera-hs
D-365
D02356
DB00661
Dexverapamil
Dignover
Dilacoran
Dilacoran HTA
DivK1c_000399
Drosteakard
Durasoptin
EINECS 200-145-1
EINECS 260-462-6
Elthon
FT-0080127
Falicard
Finoptin
Flamon
Geangin
HMS1791L15
HMS1989L15
HMS2089H17
Harteze
Hexasoptin
Hexasoptin Retard
Hormitol
I06-0063
IDI1_000399
IDI1_033983
Ikacor
Ikapress
Inselon
Iproveratril
Isoptimo
Isoptin
Isoptin Retard
Isoptin SR
Isoptin sr
Isoptine
Isoptino
Isotopin
Izoptin
Jenapamil
KBio1_000399
KBio2_000233
KBio2_002343
KBio2_002801
KBio2_004911
KBio2_005369
KBio2_007479
KBio3_000465
KBio3_000466
 
KBio3_002823
KBioGR_000233
KBioGR_001372
KBioGR_002343
KBioSS_000233
KBioSS_002346
L001330
LS-174
Lekoptin
Lodixal
Lopac0_001237
Magotiron
Manidon
Manidon Retard
MolPort-000-721-258
NCGC00016083-14
NCGC00024710-04
NCGC00024710-05
NCGC00024710-06
NCGC00024710-07
NCGC00024710-08
NCGC00024710-09
NCI60_020143
NINDS_000399
NSC272366
NU-Verap
Novapamyl LP
Novo-Veramil
Nu-Verap
Ormil
Praecicor
Prestwick0_000141
Prestwick1_000141
Prestwick2_000141
Prestwick3_000141
Quasar
Rapam
Robatelan
SPBio_001820
SPBio_002181
STK538085
Securon
Spectrum2_001740
Spectrum4_000906
Spectrum5_001786
Tarka
UNII-CJ0O37KU29
Univer
Univex
VERAPAMIL
Vasolan
Vasomil
Vasopten
Vera-Sanorania
Verabeta
Veracaps SR
Veracim
Veracor
Verahexal
Veraloc
Veramex
Veramil
Verapamil
Verapamil (USAN/INN)
Verapamil AL
Verapamil Acis
Verapamil Atid
Verapamil Basics
Verapamil Ebewe
Verapamil HCl
Verapamil Henning
Verapamil Injection
Verapamil MSD
Verapamil NM
Verapamil NM Pharma
Verapamil Nordic
Verapamil PB
Verapamil Riker
Verapamil SR
Verapamil Verla
Verapamil [USAN:BAN:INN]
Verapamil [USAN:INN:BAN]
Verapamil [Usan:Ban:Inn]
Verapamil-AbZ
Verapamilo
Verapamilo [INN-Spanish]
Verapamilum
Verapamilum [INN-Latin]
Verapin
Verapress 240 SR
Veraptin
Verasal
Verasifar
Veratensin
Verdilac
Verelan
Verelan PM
Verelan SR
Verexamil
Veroptinstada
Verpamil
Vetrimil
Vortac
Vérapamil
alpha-((N-Methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
alpha-(3-((2-(3,4-Dimethoxyphenyl)ethyl)-methylamino)propyl)-3,4-dimethoxy-alpha-(1-methylethyl)benzeneacetonitrile
alpha-Isopropyl-alpha-((N-methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
cMAP_000023
delta-365
nchembio.368-comp2
nchembio.79-comp5
4SympatholyticsPhase 4, Phase 3, Phase 2580
5Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 223689
6Vasodilator AgentsPhase 4, Phase 3, Phase 23543
7Adrenergic AgentsPhase 4, Phase 3, Phase 25352
8Adrenergic beta-AntagonistsPhase 4, Phase 3, Phase 21193
9Neurotransmitter AgentsPhase 4, Phase 3, Phase 218340
10Adrenergic AntagonistsPhase 4, Phase 3, Phase 21573
11Antihypertensive AgentsPhase 4, Phase 3, Phase 24207
12Anti-Arrhythmia AgentsPhase 4, Phase 3, Phase 23093
13Autonomic AgentsPhase 4, Phase 3, Phase 210150
14Adrenergic beta-1 Receptor AntagonistsPhase 4, Phase 3, Phase 2364
15Angiotensin-Converting Enzyme InhibitorsPhase 4, Phase 3724
16calcium channel blockersPhase 41985
17HIV Protease InhibitorsPhase 4, Phase 35470
18Calcium, DietaryPhase 45713
19
protease inhibitorsPhase 4, Phase 35471
Synonyms:
 
protease inhibitors
20
Nebivololapproved, investigationalPhase 382152520-56-4, 99200-09-6, 118457-14-071301
Synonyms:
1,1'-Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)-2,2'-iminodiethanol
1,1'-[Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)]-2,2'-iminodiethanol
1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-[[2-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-hydroxyethyl]amino]ethanol
104365-59-5
118457-14-0
2,2'-iminobis[1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)ethanol]
99200-09-6
AC-1611
AC1L2FX8
AC1Q4OMF
Bystolic
C22H25F2NO4
CHEMBL434394
CID71301
D05127
DB04861
I06-0378
L001284
LS-178404
Lobivon
MolPort-003-849-343
Narbivolol
Nebicard-5
 
Nebilet
Nebilong
Nebipill
Nebivolol
Nebivolol (USAN/INN)
Nebivolol [USAN:INN:BAN]
Nebivololum
Nebivololum [Latin]
Nebivololum [latin]
Nodon
Nubeta
PDSP1_000244
PDSP2_000243
PI-21858
R 67555
R-67555
R65,824
UNII-030Y90569U
alpha,alpha'-(Iminobis(methylene))bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(Iminodimethylene)bis(6-fluoro-2-chromanmethanol)
alpha,alpha'-(iminobis(methylene))bis(6-fluoro-3,4-dihydro)-2H-1-benzopyran-2-methanol
alpha,alpha'-(iminobismethylene)bis-(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(iminodimethylene)bis-(6-fluoro-2-chromanmethanol)
nebivololum [latin]
21
LosartanapprovedPhase 3, Phase 2286114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
22Adrenergic beta-AgonistsPhase 31714
23MitogensPhase 31617
24Adrenergic AgonistsPhase 33027
25Angiotensin II Type 1 Receptor BlockersPhase 3, Phase 21091
26
Angiotensin IIPhase 3, Phase 2117868521-88-0, 11128-99-765143, 172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
27Angiotensin Receptor AntagonistsPhase 3, Phase 21191
28AngiotensinogenPhase 3, Phase 21177
29
Propranololapproved, investigationalPhase 2228525-66-64946
Synonyms:
(+-)-Propranolol
(1)-1-(Isopropylamino)-3-(naphthyloxy)propan-2-ol
(R)-(+)-propranolol
(S)-(-)-PROPRANOLOL
1-((1-Methylethyl)amino)-3-(1-naphthalenyloxy)-2-propanol
1-(1-Naphthyloxy)-2-hydroxy-3-(isopropylamino)propane
1-(Isopropylamino)-3-(1-naphthoxy)-propan-2-ol
1-(Isopropylamino)-3-(1-naphthyloxy)-2-propanol
1-(isopropylamino)-3-(1-naphthyloxy)propan-2-ol
1-(naphthalen-1-yloxy)-3-(propan-2-ylamino)propan-2-ol
1-Isopropylamino-3-(1-naphthyloxy)-2-propanol
1-[(1-methylethyl)amino]-3-(naphthalen-1-yloxy)propan-2-ol
1-naphthalen-1-yloxy-3-(propan-2-ylamino)propan-2-ol
13013-17-7
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)- (9CI)
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)-, (+-)- (9CI)
3-(naphthalen-1-yloxy)-1-(propan-2-ylamino)propan-2-ol
4199-09-1
4199-10-4
525-66-6
AB00053537
AC1L1JA4
AC1Q1QBV
AC1Q1QC0
AKOS000588816
AY 64043
AY-20694
Anaprilin
Anapriline
Angilol
Apsolol
Avlocardyl
BPBio1_001040
BRD-A10070317-003-06-9
BSPBio_000944
BSPBio_002682
Bedranol
Beprane
Berkolol
Beta Neg
Beta-Neg
Beta-Propranolol
Beta-Tablinen
Beta-Timelets
Betachron
Betadren
Betalong
Bio-0732
Bio1_000367
Bio1_000856
Bio1_001345
C07407
C16H21NO2
CBDivE_006180
CCRIS 3082
CHEBI:8499
CHEMBL27
CID4946
Cardinol
Caridolol
Corpendol
D,L-Propranolol
D08443
DB00571
DL-Propranolol hydrochloride
Deralin
DivK1c_000023
Dl-Propranolol Hydrochloride
Dociton
Duranol
EINECS 208-378-0
EINECS 235-867-6
Efektolol
Elbrol
Etalong
Euprovasin
Frekven
HMS2090L21
Herzbase
ICI 45520
IDI1_000023
INDERIDE-40/25
INDERIDE-80/25
Ikopal
Inderal
Inderal La
Inderal hydrochloride
Inderalici
Inderex
Inderide
Inderol
Indobloc
InnoPranXL
 
Innopran XL
Intermigran
KBio1_000023
KBio2_002515
KBio2_005083
KBio2_007651
KBio3_001766
KBio3_001902
KBio3_002993
KBioGR_001347
KBioGR_001684
KBioGR_002515
KBioSS_002523
Kemi
Kemi S
L000679
LS-122410
LS-184129
Lopac0_000896
Migrastat
MolPort-001-794-623
NCGC00015798-07
NCGC00024690-02
NCGC00024690-03
NINDS_000023
NSC91523
Naprilin
Obsidan
Obzidan
Oposim
Oprea1_304193
PDSP1_000767
PDSP1_001607
PDSP1_001608
PDSP2_000755
PDSP2_001591
PDSP2_001592
Prano-Puren
Pranolol
Prestwick0_000952
Prestwick1_000952
Prestwick2_000952
Prestwick3_000952
Pronovan
Propanalol
Propanix
Propanolol
Propanolol [INN-Spanish]
Prophylux
Propranalol
Propranolol
Propranolol (INN)
Propranolol (TN)
Propranolol Hcl
Propranolol Hcl Intensol
Propranolol Hydrochloride
Propranolol [INN:BAN]
Propranololo
Propranololo [DCIT]
Propranololum
Propranololum [INN-Latin]
Propranur
Proprasylyt
Pylapron
R,S-Propranolol Hydrochloride
Racemic propranolol
Rapynogen
Reducor
Reducor Line
Reducor line
SPBio_001361
SPBio_001658
SPBio_003093
STK735510
Sagittol
Sawatal
Servanolol
Sloprolol
Spectrum2_001301
Spectrum2_001699
Spectrum3_000883
Spectrum3_001071
Spectrum4_000974
Spectrum4_001222
Spectrum5_000751
Sumial
Tesnol
UNII-9Y8NXQ24VQ
b-Propranolol
beta-Propranolol
cMAP_000071
etalong
propranolol
propranololo
β-Propranolol
30
Doxycyclineapproved, investigational, vet_approvedPhase 2243564-25-054671203
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
5-hydroxy-α-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6alpha-deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Alti-Doxycycline
Anhydrous doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
 
Doxycycline (INN)
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
31
Irbesartanapproved, investigationalPhase 2102138402-11-63749
Synonyms:
138402-11-6
2-Butyl-3-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-1,3-diazaspiro(4.4)non-1-en-4-one
2-Butyl-3-[2'-(1H-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[4.4]non-1-en-4-one
2-Butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-[ p -( o -1 H -tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4,4]non-1-en-4-one
2-butyl-3-[2'-(1h-tetrazol-5-yl)-biphenyl-4-ylmethyl]-1,3-diaza-spiro[
2-butyl-3-[2'-(1h-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[
2-butyl-3-[p-(o-1H-tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-n-butyl-3-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)-1,3-diazaspiro(4,4)non-1-en-4-one
8-butyl-7-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]-7,9-diazaspiro[4.4]non-8-en-6-one
AC-537
AC1L1GMK
Aprovel
Avalide
Avapro
Avapro (TN)
BIDD:GT0347
BMS 186295
BMS Brand of Irbesartan
BMS-186295
BMS-186295, SR-47436, Aprovel, Karvea, Irbesartan
BRD-K60038276-001-02-5
BSPBio_002687
Bio-0053
Bristol Myers Brand of Irbesartan
C07469
C081309
C25H28N6O
CHEBI:5959
CHEMBL1513
CID3749
CPD000466306
D00523
DB01029
HMS1922J05
HMS2051L08
HMS2093E16
 
I06-0690
Irbesarran
Irbesartan
Irbesartan (JAN/USAN/INN)
Irbesartan [USAN:INN]
Irbesartan [Usan:Inn]
Irbetan
Jsp002315
KBio2_002231
KBio2_004799
KBio2_007367
KBio3_001907
KBioGR_001603
KBioSS_002231
Karvea
L000319
LS-60064
Lrbesartan
MLS000759408
MLS001424099
MolPort-003-666-550
NCGC00095122-01
NCGC00095122-02
NCGC00095122-03
S1507_Selleck
SAM001246548
SMR000466306
SPBio_001889
SPECTRUM1504259
SR 47436
SR-47436
STK645362
Sanofi Winthrop Brand of Irbesartan
Spectrum2_001675
Spectrum3_000994
Spectrum4_001122
Spectrum5_001288
Spectrum_001751
TL8000875
UNII-J0E2756Z7N
irbesartan
32Pharmaceutical SolutionsPhase 1, Phase 28192
33Antiprotozoal AgentsPhase 22051
34AntimalarialsPhase 21246
35Anti-Bacterial AgentsPhase 211226
36Anti-Infective AgentsPhase 222062
37Antiparasitic AgentsPhase 22199
38Anesthetics9596

Interventional clinical trials:

(show all 31)
idNameStatusNCT IDPhase
1Comparison of Medical Therapies in Marfan Syndrome.CompletedNCT01295047Phase 4
2Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan SyndromeUnknown statusNCT01145612Phase 3
3Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockersUnknown statusNCT00782327Phase 3
4Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan PatientsUnknown statusNCT00683124Phase 3
5Angiotensin Converting Enzyme Inhibitors in Marfan SyndromeCompletedNCT00485368Phase 3
6Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart NetworkCompletedNCT00429364Phase 3
7Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan SyndromeCompletedNCT00723801Phase 3
8Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFSCompletedNCT01715207Phase 3
9Artisan Aphakia Lens for the Correction of Aphakia in ChildrenRecruitingNCT01547442Phase 3
10Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan SyndromeTerminatedNCT00763893Phase 3
11Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan SyndromeWithdrawnNCT01361087Phase 3
12A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan SyndromeUnknown statusNCT00651235Phase 2
13Losartan Versus Atenolol for the Treatment of Marfan SyndromeCompletedNCT00593710Phase 2
14The Oxford Marfan TrialRecruitingNCT01949233Phase 2
15Clinical Study of the Efficacy and Safety of the Application of Allogeneic Mesenchymal (Stromal) Cells of Bone Marrow, Cultured Under the Hypoxia in the Treatment of Patients With Severe Pulmonary EmphysemaRecruitingNCT01849159Phase 1, Phase 2
16Thoracic Aortic Dilatation SyndromesUnknown statusNCT02111668
17Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic SclerosisUnknown statusNCT00006393
18Clinical Variability in Marfan SyndromeCompletedNCT01707563
19Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan SyndromeCompletedNCT01760668
20Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesCompletedNCT02213484
21Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
22Study of Heritable Connective Tissue DisordersCompletedNCT00001641
23Family Myopia StudyCompletedNCT00341549
24National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165
25Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem CellsRecruitingNCT02815072
26Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
27Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
28Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
29Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study.RecruitingNCT02018835
30Efficacy in Daily Use of a Novel Skin Care Product for the Treatment of Photoaged SkinNot yet recruitingNCT03144193
31Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart DiseaseWithdrawnNCT01300221

Search NIH Clinical Center for Marfan Syndrome


Cochrane evidence based reviews: marfan syndrome

Genetic Tests for Marfan Syndrome

About this section

Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome27 24 FBN1

Anatomical Context for Marfan Syndrome

About this section

MalaCards organs/tissues related to Marfan Syndrome:

36
Heart, Bone, Eye, Lung, Skin, Testes, Spinal cord

Publications for Marfan Syndrome

About this section

Articles related to Marfan Syndrome:

(show top 50)    (show all 908)
idTitleAuthorsYear
1
High-Resolution Morphological Approach to Analyse Elastic Laminae Injuries of the Ascending Aorta in a Murine Model of Marfan Syndrome. (28473723)
2017
2
Aortic Arch in Marfan Syndrome Repaired Using the XL-stent. (28454886)
2017
3
A Case of Acute Paraplegia Due to Aortic Dissection in Marfan Syndrome. (28479826)
2017
4
Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome. (28067899)
2017
5
Coronary Involvement in Marfan Syndrome: The Role of Electrocardiographically Gated Computed Tomography Angiography. (28465996)
2017
6
Accuracy of pedicle screw placement in patients with Marfan syndrome. (28327138)
2017
7
Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm. (28385916)
2017
8
Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg. (28321935)
2017
9
Marfan Syndrome: Staging Nonsurgical vs Surgical Treatments in Children With Subluxated Lenses and Refractive Problems. (28338994)
2017
10
The Structural Role of Elastic Fibers in the Cornea Investigated Using a Mouse Model for Marfan Syndrome. (28395026)
2017
11
Florida Sleeve Procedure Is Durable and Improves Aortic Valve Function in Marfan Syndrome Patients. (28410640)
2017
12
A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15. (27739187)
2017
13
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. (27914124)
2017
14
Corneal K-Values as a Diagnostic Screening Tool for Marfan Syndrome. (28476049)
2017
15
Characterization of pain, disability, and psychological burden in Marfan syndrome. (27862906)
2017
16
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). (28482718)
2017
17
The role of advanced echocardiography and cardiovascular magnetic resonance in the assessment of myocardial function in Marfan syndrome-An update. (28317279)
2017
18
Oxidation injury and local mediator interplay in Marfan syndrome. (28466775)
2017
19
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. (27893734)
2017
20
Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. (28468757)
2017
21
A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl. (28442527)
2017
22
Interventional Spine Considerations for Dural Ectasia in a Patient With Marfan Syndrome. (28350559)
2017
23
A Novel Murine Model of Marfan Syndrome Accelerates Aortopathy and Cardiomyopathy. (28347539)
2017
24
Pregnancy-related acute aortic dissection in Marfan syndrome: A review of the literature. (28371362)
2017
25
Longitudinal Evaluation of Aortic Hemodynamics in Marfan Syndrome: New Insights from a 4D Flow Cardiovascular Magnetic Resonance Multi-Year Follow-Up Study. (28327193)
2017
26
Oral management of Marfan syndrome: an overview and case report. (27814256)
2016
27
Losartan Attenuates Degradation of Aorta and Lung Tissue Micromechanics in a Mouse Model of Severe Marfan Syndrome. (27090893)
2016
28
Imaging, Endoscopic and Genetic Assessment of Marfan Syndrome Presenting with Sigmoid Volvulus: A Review. (27382527)
2016
29
Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations. (27085269)
2016
30
Editorial Commentary: Understanding Marfan syndrome, or "how not to invent the light bulb". (27013137)
2016
31
Marfan syndrome associated aortic disease in neonates and children: a clinical-morphologic review. (27479044)
2016
32
Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. (27175573)
2016
33
The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be? (27099264)
2016
34
Quantifying Health Status and Function in Marfan Syndrome. (27082886)
2016
35
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain. (27022329)
2016
36
Chimney and sandwich stent grafts for hybrid repair of type A dissection late after a Bentall for Marfan syndrome. (27206808)
2016
37
Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). (27515814)
2016
38
Retropupillary iris-claw intraocular lens in ectopia lentis in Marfan syndrome. (27382335)
2016
39
Ambulatory (24A h) blood pressure and arterial stiffness measurement in Marfan syndrome patients: a case control feasibility and pilot study. (27151044)
2016
40
Infantile Marfan syndrome in a Korean tertiary referral center. (26958064)
2016
41
Acute Eye Pain Following Prolonged Face-Down Positioning in a Patient With Marfan Syndrome. (28033436)
2016
42
The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. (27843325)
2016
43
Teaching NeuroImages: Intracranial hypotension in a patient with Marfan syndrome. (27462045)
2016
44
Novel reconstruction of a vascular aneurysm in Marfan syndrome. (27807052)
2016
45
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. (27733734)
2016
46
Co-occurrence of Marfan syndrome and bipolar disorder: A fifteen year follow up. (27931917)
2016
47
Participation of oleic acid in the formation of the aortic aneurysm in Marfan syndrome patients. (27163200)
2016
48
Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases. (28050285)
2016
49
Vascular smooth muscle cells in Marfan syndrome aneurysm: the broken bricks in the aortic wall. (27535662)
2016
50
A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family. (27353645)
2016

Variations for Marfan Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

70 (show all 320)
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys111ArgVAR_002276
2FBN1p.Arg122CysVAR_002277rs137854467
3FBN1p.Cys129TyrVAR_002278
4FBN1p.Cys166PheVAR_002279
5FBN1p.Cys166SerVAR_002280
6FBN1p.Trp217GlyVAR_002281
7FBN1p.Cys476GlyVAR_002282
8FBN1p.Asp490TyrVAR_002283
9FBN1p.Arg545CysVAR_002284
10FBN1p.Asn548IleVAR_002285rs137854462
11FBN1p.Cys587TyrVAR_002286
12FBN1p.Arg627CysVAR_002287
13FBN1p.Cys661ArgVAR_002288
14FBN1p.Ala705ThrVAR_002289
15FBN1p.Cys711TyrVAR_002290
16FBN1p.Asp723AlaVAR_002291rs137854463
17FBN1p.Tyr746CysVAR_002292
18FBN1p.Cys750GlyVAR_002293
19FBN1p.Cys862ArgVAR_002294
20FBN1p.Cys926ArgVAR_002295
21FBN1p.Val984IleVAR_002296
22FBN1p.Cys996ArgVAR_002297rs140592
23FBN1p.Gly1013ArgVAR_002298rs140593
24FBN1p.Lys1023AsnVAR_002299
25FBN1p.Lys1043ArgVAR_002300rs137854472
26FBN1p.Ile1048ThrVAR_002301
27FBN1p.Cys1053ArgVAR_002303
28FBN1p.Cys1055GlyVAR_002304
29FBN1p.Asp1072GlyVAR_002306
30FBN1p.Glu1073LysVAR_002307rs137854478
31FBN1p.Cys1074ArgVAR_002308rs137854465
32FBN1p.Cys1086TrpVAR_002309
33FBN1p.Cys1117GlyVAR_002310
34FBN1p.Cys1117TyrVAR_002311rs137854470
35FBN1p.Gly1127SerVAR_002312rs137854468
36FBN1p.Arg1137ProVAR_002314rs137854456
37FBN1p.Cys1153TyrVAR_002316rs140599
38FBN1p.Asp1155AsnVAR_002317
39FBN1p.Arg1170HisVAR_002318rs137854475
40FBN1p.Cys1171TrpVAR_002319
41FBN1p.Asn1173LysVAR_002320
42FBN1p.Cys1223TyrVAR_002321rs137854469
43FBN1p.Cys1242TyrVAR_002322rs137854471
44FBN1p.Cys1249SerVAR_002323rs137854458
45FBN1p.Asn1382SerVAR_002324
46FBN1p.Asp1404TyrVAR_002325
47FBN1p.Cys1513ArgVAR_002326
48FBN1p.Cys1589PheVAR_002327
49FBN1p.Cys1610GlyVAR_002328
50FBN1p.Cys1663ArgVAR_002329rs137854459
51FBN1p.Pro1837SerVAR_002330
52FBN1p.Asn1893LysVAR_002331
53FBN1p.Cys1928ArgVAR_002332
54FBN1p.Cys2099TrpVAR_002333
55FBN1p.Cys2111TyrVAR_002334
56FBN1p.Asp2127GluVAR_002335
57FBN1p.Asn2144SerVAR_002336rs137854461
58FBN1p.Cys2151TrpVAR_002337
59FBN1p.Cys2221SerVAR_002338rs137854460
60FBN1p.Cys2258ArgVAR_002339
61FBN1p.Arg2282TrpVAR_002340
62FBN1p.Cys2307SerVAR_002341rs137854457
63FBN1p.Glu2447LysVAR_002342rs137854464
64FBN1p.Cys2489ArgVAR_002343
65FBN1p.Cys2511ArgVAR_002344
66FBN1p.His2623ProVAR_002345
67FBN1p.Gly2627ArgVAR_002346
68FBN1p.Arg2680CysVAR_002347
69FBN1p.Cys504PheVAR_010776
70FBN1p.Cys1129TyrVAR_010777rs137854482
71FBN1p.Tyr1261CysVAR_010778
72FBN1p.Cys1833SerVAR_010779
73FBN1p.Cys2142TyrVAR_010780
74FBN1p.Arg62CysVAR_017967rs25403
75FBN1p.Cys89PheVAR_017968rs112660651
76FBN1p.Arg114CysVAR_017969
77FBN1p.Cys154SerVAR_017971
78FBN1p.Arg240CysVAR_017972rs137854480
79FBN1p.Trp366CysVAR_017973
80FBN1p.Gly560SerVAR_017974
81FBN1p.Cys570TyrVAR_017975
82FBN1p.Gly592AspVAR_017976
83FBN1p.Cys596TyrVAR_017977
84FBN1p.Cys598TrpVAR_017978
85FBN1p.Cys652SerVAR_017979
86FBN1p.Asp654AsnVAR_017980
87FBN1p.Ser681TyrVAR_017982
88FBN1p.Cys683ArgVAR_017983
89FBN1p.Cys685TrpVAR_017984rs140603
90FBN1p.Asp723ValVAR_017985
91FBN1p.Cys734PheVAR_017986
92FBN1p.Cys748TyrVAR_017987
93FBN1p.Cys776GlyVAR_017988
94FBN1p.Cys776TyrVAR_017989
95FBN1p.Cys781ArgVAR_017990
96FBN1p.Cys816SerVAR_017991
97FBN1p.Cys890ArgVAR_017992
98FBN1p.Cys908ArgVAR_017993
99FBN1p.Glu913GlyVAR_017994
100FBN1p.Cys921GlyVAR_017995
101FBN1p.Gly985ArgVAR_017996
102FBN1p.Cys1044TyrVAR_017997
103FBN1p.Cys1055TrpVAR_017998
104FBN1p.Cys1055TyrVAR_017999
105FBN1p.Tyr1101CysVAR_018000
106FBN1p.Glu1200GlyVAR_018002
107FBN1p.Glu1325GlnVAR_018003
108FBN1p.Ala1337ProVAR_018004
109FBN1p.Cys1339TyrVAR_018005
110FBN1p.Glu1366LysVAR_018006
111FBN1p.Cys1374SerVAR_018007
112FBN1p.Cys1389ArgVAR_018008
113FBN1p.Pro1424AlaVAR_018010
114FBN1p.Cys1429SerVAR_018011
115FBN1p.Cys1564TyrVAR_018013
116FBN1p.Cys1770PheVAR_018015
117FBN1p.Arg1790ProVAR_018016
118FBN1p.Cys1791TyrVAR_018017
119FBN1p.Cys1793TrpVAR_018018
120FBN1p.Gly1796GluVAR_018019
121FBN1p.Cys1806SerVAR_018020
122FBN1p.Cys1835TyrVAR_018021rs111929350
123FBN1p.Ile1909ThrVAR_018022
124FBN1p.Arg1915SerVAR_018023
125FBN1p.Cys1971TyrVAR_018025
126FBN1p.Cys1977TyrVAR_018026
127FBN1p.Cys1998TyrVAR_018027
128FBN1p.Cys2111ArgVAR_018029rs363815
129FBN1p.Cys2221GlyVAR_018031
130FBN1p.Asn2223HisVAR_018032
131FBN1p.Ile2269ThrVAR_018033
132FBN1p.Arg2335TrpVAR_018034
133FBN1p.Cys2406TyrVAR_018036
134FBN1p.Cys2442TrpVAR_018037
135FBN1p.Tyr2474CysVAR_018038
136FBN1p.Cys2581PheVAR_018039
137FBN1p.Ile2585ThrVAR_018040
138FBN1p.Gly2618ArgVAR_018041rs141133182
139FBN1p.Asn2624LysVAR_018042
140FBN1p.Cys2652GlyVAR_018043
141FBN1p.Gly2668CysVAR_018044
142FBN1p.Gly985GluVAR_018319rs137854477
143FBN1p.Cys1265ArgVAR_018320rs137854474
144FBN1p.Tyr20CysVAR_023859
145FBN1p.Cys123TyrVAR_023860
146FBN1p.Cys177ArgVAR_023861rs363853
147FBN1p.Cys224ArgVAR_023862
148FBN1p.Arg439GlyVAR_023863
149FBN1p.Cys541TyrVAR_023865
150FBN1p.Tyr635CysVAR_023868
151FBN1p.Arg636IleVAR_023869
152FBN1p.Cys781TyrVAR_023870
153FBN1p.Cys832TyrVAR_023871
154FBN1p.Cys890GlyVAR_023872
155FBN1p.Gly1058AspVAR_023873
156FBN1p.Asp1113ValVAR_023874
157FBN1p.Cys1153SerVAR_023875
158FBN1p.Tyr1219CysVAR_023877
159FBN1p.Tyr1261AspVAR_023878
160FBN1p.Cys1278SerVAR_023879
161FBN1p.Cys1284GlyVAR_023880
162FBN1p.Cys1333SerVAR_023881
163FBN1p.Cys1402ArgVAR_023882
164FBN1p.Pro1424SerVAR_023883
165FBN1p.Gly1475GluVAR_023884
166FBN1p.Gly1475SerVAR_023885
167FBN1p.Cys1564PheVAR_023886
168FBN1p.Met1576ThrVAR_023887
169FBN1p.Cys1631GlyVAR_023888
170FBN1p.Cys1663TyrVAR_023889
171FBN1p.Cys1791ArgVAR_023890
172FBN1p.Cys1806TyrVAR_023891
173FBN1p.Cys1876TyrVAR_023892rs112728248
174FBN1p.Thr1887IleVAR_023893
175FBN1p.Cys1895ArgVAR_023894
176FBN1p.Cys1900TyrVAR_023895
177FBN1p.Cys1928GlyVAR_023896
178FBN1p.Cys1928TyrVAR_023897
179FBN1p.Cys2038TyrVAR_023898rs363804
180FBN1p.Cys2085ArgVAR_023899
181FBN1p.Ala2160ProVAR_023900
182FBN1p.Cys2221PheVAR_023901
183FBN1p.Cys2251ArgVAR_023902rs112836174
184FBN1p.Ala2385ThrVAR_023903
185FBN1p.Cys2500ArgVAR_023904
186FBN1p.Cys2500TyrVAR_023905
187FBN1p.Cys2535TrpVAR_023906rs113544411
188FBN1p.Gly2536ArgVAR_023907
189FBN1p.Glu2570LysVAR_023908
190FBN1p.Cys2571ArgVAR_023909
191FBN1p.Cys2592SerVAR_023910
192FBN1p.Cys2605TyrVAR_023912
193FBN1p.Glu2610LysVAR_023913rs111984349
194FBN1p.Tyr2629CysVAR_023914
195FBN1p.Cys2663SerVAR_023915
196FBN1p.Cys1068GlyVAR_064503
197FBN1p.Cys80GlyVAR_065981
198FBN1p.Cys499TyrVAR_065982
199FBN1p.Cys611ArgVAR_065983
200FBN1p.Cys617GlyVAR_065984
201FBN1p.Cys685TyrVAR_065985
202FBN1p.Cys790TyrVAR_065986
203FBN1p.Cys811TyrVAR_065987
204FBN1p.Cys853SerVAR_065988
205FBN1p.Cys926TyrVAR_065989
206FBN1p.Pro1090SerVAR_065990
207FBN1p.Gly1185AspVAR_065991
208FBN1p.Cys1284TyrVAR_065992
209FBN1p.Cys1350PheVAR_065993
210FBN1p.Thr1401AlaVAR_065994
211FBN1p.Cys1431TrpVAR_065995rs112375043
212FBN1p.Cys1431TyrVAR_065996
213FBN1p.Asp1487AlaVAR_065998
214FBN1p.Asn1489LysVAR_065999
215FBN1p.Gly1838CysVAR_066000
216FBN1p.Cys1934SerVAR_066001
217FBN1p.Glu1976GlyVAR_066002
218FBN1p.Cys1984ArgVAR_066003
219FBN1p.Asp2166AsnVAR_066004
220FBN1p.Ile2185ThrVAR_066005
221FBN1p.Asp2247GlyVAR_066006
222FBN1p.Cys2318ArgVAR_066007rs111588631
223FBN1p.Cys2442SerVAR_066008
224FBN1p.Cys2646ArgVAR_066010
225FBN1p.Gly55GluVAR_075985
226FBN1p.Asn57AspVAR_075986
227FBN1p.Cys100TyrVAR_075989
228FBN1p.Cys136SerVAR_075991
229FBN1p.Cys177SerVAR_075994
230FBN1p.Cys177TyrVAR_075995
231FBN1p.Gly214SerVAR_075996
232FBN1p.His219GlnVAR_075998
233FBN1p.Cys365ArgVAR_076003
234FBN1p.Val449IleVAR_076007
235FBN1p.Cys474TrpVAR_076008
236FBN1p.Cys488ArgVAR_076009
237FBN1p.Cys546TrpVAR_076011
238FBN1p.Cys576TyrVAR_076013
239FBN1p.Cys582ArgVAR_076014
240FBN1p.Cys623PheVAR_076016
241FBN1p.Cys684TyrVAR_076020
242FBN1p.Cys699SerVAR_076021
243FBN1p.Gly721CysVAR_076022
244FBN1p.Cys727TyrVAR_076023
245FBN1p.Cys816ArgVAR_076025
246FBN1p.Phe828CysVAR_076026
247FBN1p.Gly880SerVAR_076028
248FBN1p.Ala882ValVAR_076029
249FBN1p.Gly884GluVAR_076030
250FBN1p.Cys908TyrVAR_076031
251FBN1p.Asp910HisVAR_076032
252FBN1p.Arg974CysVAR_076037
253FBN1p.Arg976HisVAR_076038
254FBN1p.Cys1008TyrVAR_076041
255FBN1p.Cys1032TyrVAR_076044
256FBN1p.Gly1042SerVAR_076045
257FBN1p.Cys1074TyrVAR_076046
258FBN1p.Asn1088IleVAR_076048
259FBN1p.Cys1117ArgVAR_076049
260FBN1p.His1130ProVAR_076051
261FBN1p.Cys1138TyrVAR_076053
262FBN1p.Glu1158GlyVAR_076055
263FBN1p.Cys1182TrpVAR_076056
264FBN1p.Asp1199AlaVAR_076057
265FBN1p.Cys1223ArgVAR_076058
266FBN1p.Cys1249ArgVAR_076059
267FBN1p.Cys1265TyrVAR_076060
268FBN1p.Cys1307TyrVAR_076061
269FBN1p.Cys1320ArgVAR_076062
270FBN1p.Cys1326ArgVAR_076063
271FBN1p.Phe1346LeuVAR_076064
272FBN1p.Cys1402TyrVAR_076065
273FBN1p.Tyr1427AspVAR_076067
274FBN1p.Cys1485ArgVAR_076068
275FBN1p.Asp1528TyrVAR_076069
276FBN1p.Cys1622ArgVAR_076073
277FBN1p.Asp1642GlyVAR_076075
278FBN1p.Cys1672ArgVAR_076077
279FBN1p.Cys1672TyrVAR_076078
280FBN1p.Cys1674GlyVAR_076079
281FBN1p.Cys1720TyrVAR_076081
282FBN1p.Cys1793TyrVAR_076085
283FBN1p.Gly1796ValVAR_076087
284FBN1p.Glu1811LysVAR_076088
285FBN1p.Cys1812ArgVAR_076089
286FBN1p.Asn1826SerVAR_076091
287FBN1p.Ser1830CysVAR_076092
288FBN1p.Cys1835PheVAR_076093
289FBN1p.Cys1847ArgVAR_076094
290FBN1p.Cys1847TrpVAR_076095
291FBN1p.Cys1860TyrVAR_076096
292FBN1p.Cys1865ArgVAR_076097
293FBN1p.Gly1879AspVAR_076098
294FBN1p.Glu1894LysVAR_076099
295FBN1p.Thr1908IleVAR_076101
296FBN1p.Gly1919AspVAR_076102
297FBN1p.Cys1934GlyVAR_076104
298FBN1p.Cys1977ArgVAR_076105
299FBN1p.Cys1977TrpVAR_076106
300FBN1p.Gly1987ArgVAR_076107
301FBN1p.Cys2084TrpVAR_076113
302FBN1p.Cys2084TyrVAR_076114
303FBN1p.Ile2118MetVAR_076116
304FBN1p.Glu2130LysVAR_076117
305FBN1p.Asn2144AspVAR_076119
306FBN1p.Thr2145ProVAR_076120
307FBN1p.Cys2153TyrVAR_076121
308FBN1p.Cys2221ArgVAR_076125
309FBN1p.Cys2232TyrVAR_076128
310FBN1p.Cys2258TyrVAR_076131
311FBN1p.Cys2274TrpVAR_076134
312FBN1p.Pro2284ThrVAR_076135
313FBN1p.Cys2470TyrVAR_076145
314FBN1p.Thr2520MetVAR_076147
315FBN1p.Cys2522TyrVAR_076148
316FBN1p.Gly2555ValVAR_076153
317FBN1p.Thr2561ProVAR_076154
318FBN1p.Cys2577ArgVAR_076156
319FBN1p.Cys2577TyrVAR_076157
320FBN1p.Asn2708SerVAR_076159

Clinvar genetic disease variations for Marfan Syndrome:

5 (show all 343)
id Gene Variation Type Significance SNP ID Assembly Location
1LTBP2NM_ 000428.2(LTBP2): c.1642C> T (p.Arg548Ter)SNVPathogenicrs137854855GRCh37Chr 14, 75017811: 75017811
2FBN1NM_ 000138.4(FBN1): c.385T> G (p.Cys129Gly)SNVPathogenicrs199474693GRCh38Chr 15, 48600196: 48600196
3FBN1NM_ 000138.4(FBN1): c.1496G> A (p.Cys499Tyr)SNVPathogenicrs587782944GRCh38Chr 15, 48513641: 48513641
4FBN1NM_ 000138.4(FBN1): c.4405C> T (p.Arg1469Cys)SNVLikely pathogenicrs587782946GRCh38Chr 15, 48470688: 48470688
5FBN1NM_ 000138.4(FBN1): c.5783G> T (p.Cys1928Phe)SNVPathogenicrs587782947GRCh38Chr 15, 48446711: 48446711
6FBN1NM_ 000138.4(FBN1): c.8521G> T (p.Glu2841Ter)SNVPathogenicrs587782948GRCh38Chr 15, 48411085: 48411085
7FBN1NM_ 000138.4(FBN1): c.1156_ 1167delAACAAGCTGTGC (p.Asn386_ Cys389del)deletionPathogenicrs672601352GRCh38Chr 15, 48516343: 48516354
8FBN1NC_ 000015.10: g.(?_ 48411326)_ (48468521_ ?)deldeletionPathogenicGRCh37Chr 15, 48703523: 48760718
9FBN1NM_ 000138.4(FBN1): c.(?_ 5475)_ (5542_ ?)del (p.(?))deletionPathogenicGRCh37Chr 15, 48744762: 48744829
10FBN1NM_ 000138.4(FBN1): c.8080C> T (p.Arg2694Ter)SNVPathogenicrs200309328GRCh37Chr 15, 48704912: 48704912
11FBN1NM_ 000138.4(FBN1): c.7754T> C (p.Ile2585Thr)SNVPathogenic/ Likely pathogenicrs727503054GRCh37Chr 15, 48712949: 48712949
12FBN1NM_ 000138.4(FBN1): c.1879C> T (p.Arg627Cys)SNVPathogenicrs727503057GRCh37Chr 15, 48797303: 48797303
13FBN1NM_ 000138.4(FBN1): c.164+2T> CSNVLikely pathogenicrs727503058GRCh37Chr 15, 48936801: 48936801
14FBN1FBN1, 366-BP DELdeletionPathogenic
15FBN1NM_ 000138.4(FBN1): c.8268G> A (p.Trp2756Ter)SNVPathogenicrs267606796GRCh37Chr 15, 48703535: 48703535
16FBN1NM_ 000138.4(FBN1): c.3746G> C (p.Cys1249Ser)SNVPathogenicrs137854458GRCh37Chr 15, 48776107: 48776107
17FBN1NM_ 000138.4(FBN1): c.4987T> C (p.Cys1663Arg)SNVPathogenicrs137854459GRCh37Chr 15, 48756174: 48756174
18FBN1NM_ 000138.4(FBN1): c.6662G> C (p.Cys2221Ser)SNVPathogenicrs137854460GRCh37Chr 15, 48725140: 48725140
19FBN1NM_ 000138.4(FBN1): c.3350G> A (p.Cys1117Tyr)SNVPathogenicrs137854470GRCh37Chr 15, 48779622: 48779622
20FBN1NM_ 000138.4(FBN1): c.3725G> A (p.Cys1242Tyr)SNVPathogenicrs137854471GRCh37Chr 15, 48776128: 48776128
21FBN1NM_ 000138.4(FBN1): c.6339T> G (p.Tyr2113Ter)SNVPathogenicrs267606797GRCh37Chr 15, 48729559: 48729559
22FBN1NM_ 000138.4(FBN1): c.6431A> G (p.Asn2144Ser)SNVPathogenicrs137854461GRCh37Chr 15, 48729223: 48729223
23FBN1NM_ 000138.4(FBN1): c.1643A> T (p.Asn548Ile)SNVPathogenicrs137854462GRCh37Chr 15, 48802312: 48802312
24FBN1NM_ 000138.4(FBN1): c.2168A> C (p.Asp723Ala)SNVPathogenicrs137854463GRCh37Chr 15, 48789588: 48789588
25FBN1FBN1, 83-BP DELdeletionPathogenic
26FBN1FBN1, IVS54DS, G-C, +1, 123-BP DELdeletionPathogenic
27FBN1NM_ 000138.4(FBN1): c.7339G> A (p.Glu2447Lys)SNVPathogenic/ Likely pathogenicrs137854464GRCh37Chr 15, 48717680: 48717680
28FBN1NM_ 000138.4(FBN1): c.8326C> T (p.Arg2776Ter)SNVPathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
29FBN1NM_ 000138.4(FBN1): c.364C> T (p.Arg122Cys)SNVPathogenicrs137854467GRCh37Chr 15, 48892414: 48892414
30FBN1NM_ 000138.4(FBN1): c.3668G> A (p.Cys1223Tyr)SNVPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
31FBN1FBN1, 1-BP DEL, 3192AdeletionPathogenic
32FBN1NM_ 000138.4(FBN1): c.6354C> T (p.Ile2118=)SNVPathogenic/ Likely pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
33FBN1NM_ 000138.4(FBN1): c.3793T> C (p.Cys1265Arg)SNVPathogenicrs137854474GRCh37Chr 15, 48776060: 48776060
34FBN1NM_ 000138.4(FBN1): c.1585C> T (p.Arg529Ter)SNVPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
35FBN1FBN1, IVS2DS, G-A, +1SNVPathogenic
36FBN1NM_ 000138.4(FBN1): c.3037G> C (p.Gly1013Arg)SNVPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
37FBN1FBN1, 33-BP INS, IVS46, G-A, +1insertionPathogenic
38FBN1NM_ 000138.4(FBN1): c.3217G> A (p.Glu1073Lys)SNVPathogenicrs137854478GRCh37Chr 15, 48780430: 48780430
39FBN1FBN1, IVS46+5G-ASNVPathogenic
40FBN1NM_ 000138.4(FBN1): c.2261A> G (p.Tyr754Cys)SNVPathogenicrs137854479GRCh37Chr 15, 48789495: 48789495
41FBN1NM_ 000138.4(FBN1): c.718C> T (p.Arg240Cys)SNVPathogenicrs137854480GRCh37Chr 15, 48829826: 48829826
42FBN1NM_ 000138.4(FBN1): c.3386G> A (p.Cys1129Tyr)SNVPathogenicrs137854482GRCh37Chr 15, 48779586: 48779586
43FBN1NM_ 000138.4(FBN1): c.3662G> A (p.Cys1221Tyr)SNVPathogenicrs137854483GRCh37Chr 15, 48777621: 48777621
44FBN1FBN1, 302.5-KB DELdeletionPathogenic
45FBN1FBN1, EX13-49DELdeletionPathogenic
46FBN1NM_ 000138.4(FBN1): c.3037G> A (p.Gly1013Arg)SNVPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
47FBN1NM_ 000138.4(FBN1): c.5888delA (p.Glu1963Glyfs)deletionLikely pathogenicrs727504315GRCh37Chr 15, 48737602: 48737602
48FBN1NM_ 000138.4(FBN1): c.5066delA (p.Asp1689Valfs)deletionLikely pathogenicrs727504347GRCh37Chr 15, 48755437: 48755437
49FBN1NM_ 000138.4(FBN1): c.6886C> T (p.Gln2296Ter)SNVPathogenicrs727504410GRCh37Chr 15, 48720654: 48720654
50FBN1NM_ 000138.4(FBN1): c.3546C> A (p.Cys1182Ter)SNVPathogenicrs727504411GRCh38Chr 15, 48487118: 48487118
51FBN1NM_ 000138.4(FBN1): c.8473_ 8475delGGA (p.Gly2825del)deletionLikely pathogenicrs727504454GRCh37Chr 15, 48703328: 48703330
52FBN1NM_ 000138.4(FBN1): c.8265_ 8266delTTinsAGGA (p.Ser2755Argfs)indelPathogenicrs727504651GRCh37Chr 15, 48703537: 48703538
53FBN1NM_ 000138.4(FBN1): c.3589G> C (p.Asp1197His)SNVLikely pathogenicrs397515793GRCh37Chr 15, 48779272: 48779272
54FBN1NM_ 000138.4(FBN1): c.1335dupG (p.Pro446Alafs)duplicationPathogenicrs730880356GRCh37Chr 15, 48807717: 48807717
55FBN1NM_ 000138.4(FBN1): c.3373C> T (p.Arg1125Ter)SNVPathogenicrs727505006GRCh38Chr 15, 48487402: 48487402
56FBN1NM_ 000138.4(FBN1): c.2942G> C (p.Cys981Ser)SNVLikely pathogenicrs727505110GRCh37Chr 15, 48782188: 48782188
57FBN1NM_ 000138.4(FBN1): c.660delC (p.Cys221Valfs)deletionPathogenicrs727505269GRCh37Chr 15, 48829884: 48829884
58FBN1NM_ 000138.4(FBN1): c.6354C> G (p.Ile2118Met)SNVLikely pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
59FBN1NM_ 000138.4(FBN1): c.1A> G (p.Met1Val)SNVLikely pathogenicrs730880097GRCh38Chr 15, 48644769: 48644769
60FBN1NM_ 000138.4(FBN1): c.281G> T (p.Cys94Phe)SNVLikely pathogenicrs730880098GRCh38Chr 15, 48610793: 48610793
61FBN1NM_ 000138.4(FBN1): c.1285C> T (p.Arg429Ter)SNVPathogenicrs112645512GRCh37Chr 15, 48808422: 48808422
62FBN1NM_ 000138.4(FBN1): c.1633C> T (p.Arg545Cys)SNVPathogenicrs730880099GRCh38Chr 15, 48510125: 48510125
63FBN1NM_ 000138.4(FBN1): c.3131G> A (p.Cys1044Tyr)SNVLikely pathogenicrs730880100GRCh37Chr 15, 48780642: 48780642
64FBN1NM_ 000138.4(FBN1): c.4453T> C (p.Cys1485Arg)SNVLikely pathogenicrs730880101GRCh38Chr 15, 48470640: 48470640
65FBN1NM_ 000138.4(FBN1): c.5280T> A (p.Tyr1760Ter)SNVLikely pathogenicrs730880103GRCh37Chr 15, 48752459: 48752459
66FBN1NM_ 000138.4(FBN1): c.5861T> G (p.Phe1954Cys)SNVLikely pathogenicrs730880104GRCh38Chr 15, 48445432: 48445432
67FBN1NM_ 000138.4(FBN1): c.2113+2T> CSNVLikely pathogenicrs730880105GRCh38Chr 15, 48503785: 48503785
68FBN1NM_ 000138.4(FBN1): c.4210+1G> ASNVLikely pathogenicrs730880106GRCh38Chr 15, 48474254: 48474254
69FBN1NM_ 000138.4(FBN1): c.6739+2T> ASNVLikely pathogenicrs730880107GRCh38Chr 15, 48432864: 48432864
70FBN1NM_ 000138.4(FBN1): c.320_ 321delTA (p.Ile107Serfs)deletionLikely pathogenicrs730880108GRCh37Chr 15, 48902950: 48902951
71FBN1NM_ 000138.4(FBN1): c.4337-1_ 4337delinsTAindelLikely pathogenicGRCh38Chr 15, 48470756: 48470757
72FBN1NM_ 000138.4(FBN1): c.640G> A (p.Gly214Ser)SNVPathogenicrs794728162GRCh38Chr 15, 48537707: 48537707
73FBN1NM_ 000138.4(FBN1): c.1090C> T (p.Arg364Ter)SNVPathogenicrs794728165GRCh38Chr 15, 48520716: 48520716
74FBN1NM_ 000138.4(FBN1): c.1726T> G (p.Cys576Gly)SNVPathogenic/ Likely pathogenicrs794728174GRCh37Chr 15, 48800890: 48800890
75FBN1NM_ 000138.4(FBN1): c.4621C> T (p.Arg1541Ter)SNVPathogenicrs794728228GRCh38Chr 15, 48468064: 48468064
76FBN1NM_ 000138.4(FBN1): c.7205-1G> ASNVPathogenic/ Likely pathogenicrs794728266GRCh38Chr 15, 48425865: 48425865
77FBN1NM_ 000138.4(FBN1): c.7531T> C (p.Cys2511Arg)SNVPathogenic/ Likely pathogenicrs794728272GRCh38Chr 15, 48421991: 48421991
78FBN1NM_ 000138.4(FBN1): c.8038C> T (p.Arg2680Cys)SNVLikely pathogenicrs794728283GRCh38Chr 15, 48415549: 48415549
79FBN1NM_ 000138.4(FBN1): c.7039_ 7040delAT (p.Met2347Valfs)deletionPathogenicrs794728319GRCh38Chr 15, 48427731: 48427732
80FBN1NM_ 000138.4(FBN1): c.1426T> G (p.Cys476Gly)SNVPathogenicrs794728326GRCh37Chr 15, 48807626: 48807626
81FBN1NM_ 000138.4(FBN1): c.7169G> A (p.Cys2390Tyr)SNVLikely pathogenicrs864622754GRCh37Chr 15, 48719799: 48719799
82FBN1NM_ 000138.4(FBN1): c.338C> G (p.Ser113Cys)SNVLikely pathogenicrs869025403GRCh38Chr 15, 48610736: 48610736
83FBN1NM_ 000138.4(FBN1): c.1909T> C (p.Cys637Arg)SNVLikely pathogenicrs869025404GRCh38Chr 15, 48505076: 48505076
84FBN1NM_ 000138.4(FBN1): c.2695G> A (p.Gly899Arg)SNVLikely pathogenicrs869025405GRCh38Chr 15, 48494237: 48494237
85FBN1NM_ 000138.4(FBN1): c.4815A> G (p.Glu1605=)SNVLikely pathogenicrs869025408GRCh38Chr 15, 48465791: 48465791
86FBN1NM_ 000138.4(FBN1): c.6694T> C (p.Cys2232Arg)SNVLikely pathogenicrs869025411GRCh37Chr 15, 48725108: 48725108
87FBN1NM_ 000138.4(FBN1): c.6820T> C (p.Cys2274Arg)SNVLikely pathogenicrs869025412GRCh38Chr 15, 48430722: 48430722
88FBN1NM_ 000138.4(FBN1): c.6865T> C (p.Cys2289Arg)SNVLikely pathogenicrs869025413GRCh37Chr 15, 48722874: 48722874
89FBN1NM_ 000138.4(FBN1): c.7141C> T (p.Gln2381Ter)SNVLikely pathogenicrs869025414GRCh38Chr 15, 48427630: 48427630
90FBN1NM_ 000138.4(FBN1): c.7421A> G (p.Tyr2474Cys)SNVLikely pathogenicrs869025415GRCh38Chr 15, 48425401: 48425401
91FBN1NM_ 000138.4(FBN1): c.7769G> A (p.Cys2590Tyr)SNVLikely pathogenicrs869025416GRCh38Chr 15, 48420737: 48420737
92FBN1NM_ 000138.4(FBN1): c.8148C> G (p.Tyr2716Ter)SNVLikely pathogenicrs112642323GRCh38Chr 15, 48412647: 48412647
93FBN1NM_ 000138.4(FBN1): c.8339T> C (p.Leu2780Pro)SNVLikely pathogenicrs869025417GRCh38Chr 15, 48411267: 48411267
94FBN1NM_ 000138.4(FBN1): c.5918-2A> GSNVLikely pathogenicrs869025418GRCh38Chr 15, 48444662: 48444662
95FBN1NM_ 000138.4(FBN1): c.6739+1G> ASNVLikely pathogenicrs869025419GRCh38Chr 15, 48432865: 48432865
96FBN1NM_ 000138.4(FBN1): c.1744_ 1745delTG (p.Cys582Profs)deletionLikely pathogenicrs869025420GRCh38Chr 15, 48508674: 48508675
97FBN1NM_ 000138.4(FBN1): c.4197delC (p.Phe1400Serfs)deletionLikely pathogenicrs869025421GRCh37Chr 15, 48766465: 48766465
98FBN1NM_ 000138.4(FBN1): c.7109delG (p.Gly2370Alafs)deletionLikely pathogenicrs869025422GRCh37Chr 15, 48719859: 48719859
99FBN1NM_ 000138.4(FBN1): c.7151_ 7152delTG (p.Val2384Glyfs)deletionLikely pathogenicrs869025423GRCh37Chr 15, 48719816: 48719817
100FBN1NM_ 000138.4(FBN1): c.7259delA (p.Asn2420Metfs)deletionLikely pathogenicrs869025424GRCh38Chr 15, 48425810: 48425810
101FBN1NM_ 000138.4(FBN1): c.3893dupA (p.Asn1298Lysfs)duplicationLikely pathogenicrs869025425GRCh37Chr 15, 48773923: 48773923
102FBN1NM_ 000138.4(FBN1): c.5016dupT (p.Ile1673Tyrfs)duplicationLikely pathogenicrs869025426GRCh37Chr 15, 48756145: 48756145
103FBN1NM_ 000138.4(FBN1): c.1714+2delTdeletionLikely pathogenicrs876657645GRCh37Chr 15, 48802239: 48802239
104FBN1NM_ 000138.4(FBN1): c.299G> A (p.Cys100Tyr)SNVLikely pathogenicrs397515782GRCh37Chr 15, 48902972: 48902972
105FBN1NM_ 000138.4(FBN1): c.1916G> A (p.Cys639Tyr)SNVLikely pathogenicrs878853676GRCh38Chr 15, 48505069: 48505069
106FBN1NM_ 000138.4(FBN1): c.434G> A (p.Cys145Tyr)SNVPathogenicrs878853682GRCh38Chr 15, 48600147: 48600147
107FBN1NM_ 000138.4(FBN1): c.4454G> C (p.Cys1485Ser)SNVLikely pathogenicrs111978932GRCh38Chr 15, 48470639: 48470639
108FBN1NM_ 000138.4(FBN1): c.5038C> T (p.Gln1680Ter)SNVPathogenicrs878853685GRCh38Chr 15, 48463926: 48463926
109FBN1NM_ 000138.4(FBN1): c.5423-?_ *2684+?deldeletionPathogenic
110FBN1NM_ 000138.4(FBN1): c.5504G> C (p.Cys1835Ser)SNVLikely pathogenicrs111929350GRCh38Chr 15, 48452603: 48452603
111FBN1NM_ 000138.4(FBN1): c.5683T> C (p.Cys1895Arg)SNVLikely pathogenicrs878853686GRCh38Chr 15, 48446811: 48446811
112FBN1NM_ 000138.4(FBN1): c.732T> A (p.Cys244Ter)SNVPathogenicrs878853689GRCh38Chr 15, 48537615: 48537615
113FBN1NM_ 000138.4(FBN1): c.5594_ 5595insTG (p.Ile1866Alafs)insertionPathogenicrs886043709GRCh37Chr 15, 48741041: 48741042
114FBN1NM_ 000138.4(FBN1): c.6682dupT (p.Tyr2228Leufs)duplicationPathogenicrs886044547GRCh37Chr 15, 48725120: 48725120
115FBN1NM_ 000138.4(FBN1): c.5284G> A (p.Gly1762Ser)SNVPathogenicrs387906623GRCh37Chr 15, 48752455: 48752455
116FBN1NM_ 000138.4(FBN1): c.1211delC (p.Pro404Hisfs)deletionPathogenic/ Likely pathogenicrs112289537GRCh37Chr 15, 48808496: 48808496
117FBN1NM_ 000138.4(FBN1): c.1634G> A (p.Arg545His)SNVLikely pathogenicrs193922179GRCh37Chr 15, 48802321: 48802321
118FBN1NM_ 000138.4(FBN1): c.1669_ 1677dupTGTAATGCG (p.Ala559_ Gly560insCysAsnAla)duplicationLikely pathogenicrs193922181GRCh37Chr 15, 48802278: 48802286
119FBN1NM_ 000138.4(FBN1): c.1709delG (p.Cys570Leufs)deletionLikely pathogenicrs193922182GRCh37Chr 15, 48802246: 48802246
120FBN1NM_ 000138.4(FBN1): c.1710T> A (p.Cys570Ter)SNVLikely pathogenicrs193922183GRCh37Chr 15, 48802245: 48802245
121FBN1NM_ 000138.4(FBN1): c.1948C> T (p.Arg650Cys)SNVLikely pathogenicrs193922185GRCh37Chr 15, 48797234: 48797234
122FBN1NM_ 000138.4(FBN1): c.2055C> G (p.Cys685Trp)SNVPathogenicrs140603GRCh37Chr 15, 48796042: 48796042
123FBN1NM_ 000138.4(FBN1): c.2057C> A (p.Ala686Asp)SNVLikely pathogenicrs193922186GRCh37Chr 15, 48796040: 48796040
124FBN1NM_ 000138.4(FBN1): c.2186delT (p.Leu729Glnfs)deletionLikely pathogenicrs193922187GRCh37Chr 15, 48789570: 48789570
125FBN1NM_ 000138.4(FBN1): c.2369G> C (p.Cys790Ser)SNVLikely pathogenicrs193922188GRCh37Chr 15, 48788347: 48788347
126FBN1NM_ 000138.4(FBN1): c.2433C> A (p.Cys811Ter)SNVPathogenic/ Likely pathogenicrs193921256GRCh37Chr 15, 48787772: 48787772
127FBN1NM_ 000138.4(FBN1): c.2479T> C (p.Ser827Pro)SNVLikely pathogenicrs193922189GRCh37Chr 15, 48787726: 48787726
128FBN1NM_ 000138.4(FBN1): c.2508T> A (p.Ser836Arg)SNVLikely pathogenicrs193922190GRCh37Chr 15, 48787697: 48787697
129FBN1NM_ 000138.4(FBN1): c.2542A> C (p.Thr848Pro)SNVLikely pathogenicrs193922191GRCh37Chr 15, 48787455: 48787455
130FBN1NM_ 000138.4(FBN1): c.266G> C (p.Cys89Ser)SNVLikely pathogenicrs112660651GRCh37Chr 15, 48903005: 48903005
131FBN1NM_ 000138.4(FBN1): c.2677G> C (p.Asp893His)SNVLikely pathogenicrs193922193GRCh37Chr 15, 48787320: 48787320
132FBN1NM_ 000138.4(FBN1): c.2682delC (p.Ile895Tyrfs)deletionLikely pathogenicrs193922194GRCh37Chr 15, 48786447: 48786447
133FBN1NM_ 000138.4(FBN1): c.2855-1G> CSNVLikely pathogenicrs112202622GRCh38Chr 15, 48490079: 48490079
134FBN1NM_ 000138.4(FBN1): c.3026C> G (p.Pro1009Arg)SNVLikely pathogenicrs148076256GRCh37Chr 15, 48782104: 48782104
135FBN1NM_ 000138.4(FBN1): c.3140_ 3141delCC (p.Thr1047Asnfs)deletionLikely pathogenicrs193922197GRCh37Chr 15, 48780632: 48780633
136FBN1NM_ 000138.4(FBN1): c.3193delG (p.Glu1065Lysfs)deletionLikely pathogenicrs193922198GRCh37Chr 15, 48780580: 48780580
137FBN1NM_ 000138.4(FBN1): c.3478G> T (p.Glu1160Ter)SNVLikely pathogenicrs193922199GRCh37Chr 15, 48779383: 48779383
138FBN1NM_ 000138.4(FBN1): c.4165T> G (p.Cys1389Gly)SNVLikely pathogenicrs193922203GRCh37Chr 15, 48766497: 48766497
139FBN1NM_ 000138.4(FBN1): c.4460-8G> ASNVPathogenic/ Likely pathogenicrs193922204GRCh37Chr 15, 48760739: 48760739
140FBN1NM_ 000138.4(FBN1): c.4467T> A (p.Asn1489Lys)SNVLikely pathogenicrs193922205GRCh37Chr 15, 48760724: 48760724
141FBN1NM_ 000138.4(FBN1): c.454A> T (p.Ser152Cys)SNVLikely pathogenicrs193922206GRCh37Chr 15, 48888564: 48888564
142FBN1NM_ 000138.4(FBN1): c.4588C> T (p.Arg1530Cys)SNVPathogenicrs111401431GRCh37Chr 15, 48760294: 48760294
143FBN1NM_ 000138.4(FBN1): c.4684T> A (p.Cys1562Ser)SNVLikely pathogenicrs193922207GRCh37Chr 15, 48760198: 48760198
144FBN1NM_ 000138.4(FBN1): c.4786C> T (p.Arg1596Ter)SNVPathogenicrs113871094GRCh37Chr 15, 48758017: 48758017
145FBN1NM_ 000138.4(FBN1): c.484G> A (p.Ala162Thr)SNVLikely pathogenicrs193922210GRCh37Chr 15, 48888534: 48888534
146FBN1NM_ 000138.4(FBN1): c.510C> G (p.Tyr170Ter)SNVLikely pathogenicrs111671429GRCh38Chr 15, 48596311: 48596311
147FBN1NM_ 000138.4(FBN1): c.5521_ 5528delTTCACCTC (p.Phe1841Hisfs)deletionLikely pathogenicrs193922212GRCh37Chr 15, 48744776: 48744783
148FBN1NM_ 000138.4(FBN1): c.5552A> G (p.Asn1851Ser)SNVLikely pathogenicrs193922214GRCh37Chr 15, 48741084: 48741084
149FBN1NM_ 000138.4(FBN1): c.556T> C (p.Cys186Arg)SNVLikely pathogenicrs193922215GRCh37Chr 15, 48829988: 48829988
150FBN1NM_ 000138.4(FBN1): c.5671G> C (p.Asp1891His)SNVLikely pathogenicrs193922216GRCh37Chr 15, 48740965: 48740965
151FBN1NM_ 000138.4(FBN1): c.56C> T (p.Ser19Phe)SNVLikely pathogenicrs193922218GRCh37Chr 15, 48936911: 48936911
152FBN1NM_ 000138.4(FBN1): c.6006_ 6012dupTGGATAC (p.Ser2005Trpfs)duplicationLikely pathogenicrs193922220GRCh37Chr 15, 48736763: 48736769
153FBN1NM_ 000138.4(FBN1): c.6385G> T (p.Asp2129Tyr)SNVLikely pathogenicrs193922223GRCh37Chr 15, 48729269: 48729269
154FBN1NM_ 000138.4(FBN1): c.649T> G (p.Trp217Gly)SNVLikely pathogenicrs193922224GRCh37Chr 15, 48829895: 48829895
155FBN1NM_ 000138.4(FBN1): c.6553_ 6556dupATTG (p.Gly2186Aspfs)duplicationLikely pathogenicrs193922225GRCh37Chr 15, 48726851: 48726854
156FBN1NM_ 000138.4(FBN1): c.6704delG (p.Gly2235Aspfs)deletionLikely pathogenicrs193922226GRCh37Chr 15, 48725098: 48725098
157FBN1NM_ 000138.4(FBN1): c.6793_ 6800dupTGCAAGAA (p.Leu2268Alafs)duplicationLikely pathogenicrs193922227GRCh37Chr 15, 48722939: 48722946
158FBN1NM_ 000138.4(FBN1): c.6806T> C (p.Ile2269Thr)SNVPathogenic/ Likely pathogenicrs193922228GRCh37Chr 15, 48722933: 48722933
159FBN1NM_ 000138.4(FBN1): c.6970G> A (p.Ala2324Thr)SNVLikely pathogenicrs148831709GRCh37Chr 15, 48720570: 48720570
160FBN1NM_ 000138.4(FBN1): c.7229A> C (p.His2410Pro)SNVLikely pathogenicrs193922230GRCh37Chr 15, 48718037: 48718037
161FBN1NM_ 000138.4(FBN1): c.7678delC (p.Gln2560Argfs)deletionLikely pathogenicrs193922235GRCh37Chr 15, 48713776: 48713776
162FBN1NM_ 000138.4(FBN1): c.7726C> T (p.Arg2576Cys)SNVPathogenic/ Likely pathogenicrs147195031GRCh37Chr 15, 48712977: 48712977
163FBN1NM_ 000138.4(FBN1): c.7806G> A (p.Trp2602Ter)SNVPathogenic/ Likely pathogenicrs193922236GRCh37Chr 15, 48712897: 48712897
164FBN1NM_ 000138.4(FBN1): c.7879G> A (p.Gly2627Arg)SNVLikely pathogenicrs193922239GRCh37Chr 15, 48707905: 48707905
165FBN1NM_ 000138.4(FBN1): c.7898G> C (p.Cys2633Ser)SNVLikely pathogenicrs193922240GRCh37Chr 15, 48707886: 48707886
166FBN1NM_ 000138.4(FBN1): c.7999G> A (p.Glu2667Lys)SNVLikely pathogenicrs149062442GRCh37Chr 15, 48707785: 48707785
167FBN1NM_ 000138.4(FBN1): c.8203delG (p.Glu2735Lysfs)deletionLikely pathogenicrs193922241GRCh37Chr 15, 48704789: 48704789
168FBN1NM_ 000138.4(FBN1): c.8412_ 8417delTAAAAT (p.Lys2805_ Ile2806del)deletionLikely pathogenicrs193922246GRCh37Chr 15, 48703386: 48703391
169FBN1NM_ 000138.4(FBN1): c.6164-2A> GSNVPathogenic/ Likely pathogenicrs794728244GRCh37Chr 15, 48730116: 48730116
170FBN1NM_ 000138.4(FBN1): c.5416delT (p.Cys1806Valfs)deletionPathogenicrs1057518912GRCh38Chr 15, 48456643: 48456643
171FBN1NM_ 000138.4(FBN1): c.6004C> T (p.Pro2002Ser)SNVLikely pathogenicrs1057519320GRCh38Chr 15, 48444574: 48444574
172FBN2NM_ 001999.3(FBN2): c.2945G> T (p.Cys982Phe)SNVLikely pathogenicrs1057519321GRCh37Chr 5, 127685083: 127685083
173FBN1NM_ 000138.4(FBN1): c.2563C> T (p.Gln855Ter)SNVPathogenicrs1057519502GRCh37Chr 15, 48787434: 48787434
174FBN1NM_ 000138.4(FBN1): c.2920C> T (p.Arg974Cys)SNVPathogenicrs397514558GRCh37Chr 15, 48782210: 48782210
175FBN1NM_ 000138.4(FBN1): c.3166delG (p.Asp1056Thrfs)deletionPathogenicrs1060501013GRCh38Chr 15, 48488410: 48488410
176FBN1NM_ 000138.4(FBN1): c.8020T> C (p.Cys2674Arg)SNVLikely pathogenicrs1060501014GRCh37Chr 15, 48707764: 48707764
177FBN1NM_ 000138.4(FBN1): c.6948T> A (p.Cys2316Ter)SNVPathogenicrs1060501016GRCh38Chr 15, 48428395: 48428395
178FBN1NM_ 000138.4(FBN1): c.1849T> G (p.Cys617Gly)SNVLikely pathogenicrs1060501017GRCh38Chr 15, 48505136: 48505136
179FBN1NM_ 000138.4(FBN1): c.811T> G (p.Cys271Gly)SNVLikely pathogenicrs1060501019GRCh38Chr 15, 48534131: 48534131
180FBN1NM_ 000138.4(FBN1): c.2722T> C (p.Cys908Arg)SNVPathogenicrs1060501021GRCh38Chr 15, 48494210: 48494210
181FBN1NM_ 000138.4(FBN1): c.2305T> C (p.Cys769Arg)SNVPathogenicrs1060501022GRCh38Chr 15, 48496214: 48496214
182FBN1NM_ 000138.4(FBN1): c.6784C> T (p.Gln2262Ter)SNVPathogenicrs1060501023GRCh38Chr 15, 48430758: 48430758
183FBN1NM_ 000138.4(FBN1): c.2080G> T (p.Glu694Ter)SNVPathogenicrs1060501024GRCh38Chr 15, 48503820: 48503820
184FBN1NM_ 000138.4(FBN1): c.4166G> C (p.Cys1389Ser)SNVPathogenicrs1060501026GRCh38Chr 15, 48474299: 48474299
185FBN1NM_ 000138.4(FBN1): c.2028_ 2029insA (p.Ala677Serfs)insertionPathogenicrs1060501027GRCh38Chr 15, 48503871: 48503872
186FBN1NM_ 000138.4(FBN1): c.5094delC (p.Tyr1699Thrfs)deletionPathogenicrs1060501031GRCh38Chr 15, 48463212: 48463212
187FBN1NM_ 000138.4(FBN1): c.8561delT (p.Leu2854Profs)deletionLikely pathogenicrs1060501033GRCh38Chr 15, 48411045: 48411045
188FBN1NM_ 000138.4(FBN1): c.6471T> A (p.Tyr2157Ter)SNVPathogenicrs1060501034GRCh38Chr 15, 48436986: 48436986
189FBN1NM_ 000138.4(FBN1): c.592C> T (p.Gln198Ter)SNVPathogenicrs1060501035GRCh38Chr 15, 48537755: 48537755
190FBN1NM_ 000138.4(FBN1): c.1538G> T (p.Cys513Phe)SNVLikely pathogenicrs1060501036GRCh38Chr 15, 48513599: 48513599
191FBN1NM_ 000138.4(FBN1): c.1134delC (p.Ile379Serfs)deletionPathogenicrs1060501038GRCh38Chr 15, 48520672: 48520672
192FBN1NM_ 000138.4(FBN1): c.4061G> A (p.Trp1354Ter)SNVPathogenicrs1060501039GRCh38Chr 15, 48474554: 48474554
193FBN1NM_ 000138.4(FBN1): c.3165T> A (p.Cys1055Ter)SNVPathogenicrs1060501040GRCh38Chr 15, 48488411: 48488411
194FBN1NM_ 000138.4(FBN1): c.5627G> A (p.Cys1876Tyr)SNVPathogenicrs112728248GRCh38Chr 15, 48448812: 48448812
195FBN1NM_ 000138.4(FBN1): c.7650_ 7651insA (p.Glu2551Argfs)insertionPathogenicrs1060501042GRCh38Chr 15, 48421606: 48421607
196FBN1NM_ 000138.4(FBN1): c.4369_ 4370delGT (p.Val1457Leufs)deletionPathogenicrs1060501043GRCh38Chr 15, 48470723: 48470724
197FBN1NM_ 000138.4(FBN1): c.6209G> T (p.Cys2070Phe)SNVLikely pathogenicrs1060501044GRCh38Chr 15, 48437872: 48437872
198FBN1NM_ 000138.4(FBN1): c.409C> T (p.Gln137Ter)SNVPathogenicrs1060501047GRCh38Chr 15, 48600172: 48600172
199FBN1NM_ 000138.4(FBN1): c.6164-1G> ASNVPathogenicrs1060501048GRCh38Chr 15, 48437918: 48437918
200FBN1NM_ 000138.4(FBN1): c.801delG (p.Ser268Leufs)deletionPathogenicrs1060501050GRCh38Chr 15, 48534141: 48534141
201FBN1NM_ 000138.4(FBN1): c.6963delG (p.Phe2322Leufs)deletionPathogenicrs1060501051GRCh38Chr 15, 48428380: 48428380
202FBN1NM_ 000138.4(FBN1): c.2420-2A> GSNVLikely pathogenicrs1060501052GRCh38Chr 15, 48495590: 48495590
203FBN1NM_ 000138.4(FBN1): c.5672-2A> GSNVPathogenicrs1060501053GRCh38Chr 15, 48446824: 48446824
204FBN1NM_ 000138.4(FBN1): c.6695G> A (p.Cys2232Tyr)SNVPathogenicrs1060501054GRCh38Chr 15, 48432910: 48432910
205FBN1NM_ 000138.4(FBN1): c.7525T> G (p.Cys2509Gly)SNVLikely pathogenicrs1060501055GRCh38Chr 15, 48421997: 48421997
206FBN1NM_ 000138.4(FBN1): c.7228_ 7232dupCACGA (p.Val2412Thrfs)duplicationPathogenicGRCh38Chr 15, 48425837: 48425841
207FBN1NM_ 000138.4(FBN1): c.1888_ 1889delAAinsC (p.Asn630Profs)indelPathogenicrs1060501058GRCh38Chr 15, 48505096: 48505097
208FBN1NM_ 000138.4(FBN1): c.2369G> T (p.Cys790Phe)SNVPathogenicrs193922188GRCh38Chr 15, 48496150: 48496150
209FBN1NM_ 000138.4(FBN1): c.6541delT (p.Cys2181Alafs)deletionPathogenicrs1060501059GRCh38Chr 15, 48434669: 48434669
210FBN1NM_ 000138.4(FBN1): c.7421delA (p.Tyr2474Serfs)deletionPathogenicrs1060501060GRCh38Chr 15, 48425401: 48425401
211FBN1NM_ 000138.4(FBN1): c.1426T> C (p.Cys476Arg)SNVLikely pathogenicrs794728326GRCh38Chr 15, 48515429: 48515429
212FBN1NM_ 000138.4(FBN1): c.4367G> T (p.Cys1456Phe)SNVLikely pathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
213FBN1NM_ 000138.4(FBN1): c.4145dupA (p.Asn1382Lysfs)duplicationPathogenicGRCh38Chr 15, 48474320: 48474320
214FBN1NM_ 000138.4(FBN1): c.7852G> T (p.Gly2618Ter)SNVPathogenicrs141133182GRCh38Chr 15, 48415735: 48415735
215FBN1NM_ 000138.4(FBN1): c.4583-5A> GSNVLikely pathogenicrs778966916GRCh38Chr 15, 48468107: 48468107
216FBN1NM_ 000138.4(FBN1): c.6576C> G (p.Cys2192Trp)SNVLikely pathogenicrs369058466GRCh38Chr 15, 48434634: 48434634
217FBN1NM_ 000138.4(FBN1): c.2638G> C (p.Gly880Arg)SNVPathogenicrs794728194GRCh38Chr 15, 48495162: 48495162
218FBN1NM_ 000138.4(FBN1): c.8087delA (p.Asn2696Thrfs)deletionLikely pathogenicrs1060501065GRCh38Chr 15, 48412708: 48412708
219FBN1NM_ 000138.4(FBN1): c.7729dupT (p.Cys2577Leufs)duplicationPathogenicGRCh38Chr 15, 48420777: 48420777
220FBN1NM_ 000138.4(FBN1): c.7881dupG (p.Ser2628Glufs)duplicationPathogenicGRCh38Chr 15, 48415706: 48415706
221FBN1NM_ 000138.4(FBN1): c.2213dupT (p.Cys739Leufs)duplicationPathogenicGRCh38Chr 15, 48497346: 48497346
222FBN1NM_ 000138.4(FBN1): c.5330G> A (p.Cys1777Tyr)SNVLikely pathogenicrs1060501069GRCh38Chr 15, 48456729: 48456729
223FBN1NM_ 000138.4(FBN1): c.5207G> A (p.Cys1736Tyr)SNVLikely pathogenicrs1060501070GRCh38Chr 15, 48463099: 48463099
224FBN1NM_ 000138.4(FBN1): c.4532G> A (p.Cys1511Tyr)SNVLikely pathogenicrs1060501074GRCh38Chr 15, 48468462: 48468462
225FBN1NM_ 000138.4(FBN1): c.3419G> A (p.Cys1140Tyr)SNVLikely pathogenicrs1060501075GRCh38Chr 15, 48487356: 48487356
226FBN1NM_ 000138.4(FBN1): c.4468G> T (p.Glu1490Ter)SNVPathogenicrs1060501076GRCh38Chr 15, 48468526: 48468526
227FBN1NM_ 000138.4(FBN1): c.7466G> A (p.Cys2489Tyr)SNVPathogenicrs1060501077GRCh38Chr 15, 48422056: 48422056
228FBN1NM_ 000138.4(FBN1): c.1915T> A (p.Cys639Ser)SNVPathogenicrs1060501078GRCh38Chr 15, 48505070: 48505070
229FBN1NM_ 000138.4(FBN1): c.7974dupC (p.Cys2659Leufs)duplicationPathogenicGRCh38Chr 15, 48415613: 48415613
230FBN1NM_ 000138.4(FBN1): c.2089C> T (p.Gln697Ter)SNVPathogenicrs1060501082GRCh38Chr 15, 48503811: 48503811
231FBN1NM_ 000138.4(FBN1): c.3973dupG (p.Glu1325Glyfs)duplicationPathogenicGRCh38Chr 15, 48474642: 48474642
232FBN1NM_ 000138.4(FBN1): c.1982G> A (p.Cys661Tyr)SNVPathogenicrs1060501086GRCh38Chr 15, 48503918: 48503918
233FBN1NM_ 000138.4(FBN1): c.5823_ 5824delTT (p.Cys1942Glnfs)deletionPathogenicrs1060501089GRCh38Chr 15, 48445469: 48445470
234FBN1NM_ 000138.4(FBN1): c.3893delA (p.Asn1298Thrfs)deletionPathogenicrs1060501090GRCh38Chr 15, 48481726: 48481726
235FBN1NM_ 000138.4(FBN1): c.2293+1G> ASNVLikely pathogenicrs1060501092GRCh38Chr 15, 48497265: 48497265
236FBN1NM_ 000138.4(FBN1): c.7331A> G (p.Asp2444Gly)SNVPathogenicrs1060501093GRCh38Chr 15, 48425491: 48425491
237FBN1NM_ 000138.4(FBN1): c.978delC (p.Arg327Aspfs)deletionPathogenicrs1060501094GRCh38Chr 15, 48526140: 48526140
238FBN1NM_ 000138.4(FBN1): c.6159C> A (p.Cys2053Ter)SNVPathogenicrs1060501095GRCh37Chr 15, 48733922: 48733922
239FBN1NM_ 000138.4(FBN1): c.1572delG (p.Arg525Glyfs)deletionPathogenicrs1060501096GRCh38Chr 15, 48513565: 48513565
240FBN1NM_ 000138.4(FBN1): c.3895dupA (p.Thr1299Asnfs)duplicationPathogenicGRCh38Chr 15, 48481724: 48481724
241FBN1NM_ 000138.4(FBN1): c.799_ 805delGGGTCTT (p.Gly267Leufs)deletionPathogenicrs1060501100GRCh38Chr 15, 48534137: 48534143
242FBN1NM_ 000138.4(FBN1): c.4253_ 4259delGCCAGTG (p.Gly1418Alafs)deletionPathogenicrs398122934GRCh37Chr 15, 48764825: 48764831
243FBN1NC_ 000015.10: g.(?_ 48470634)_ (48470756_ ?)deldeletionLikely pathogenicGRCh38Chr 15, 48470634: 48470756
244FBN1NM_ 000138.4(FBN1): c.1051C> T (p.Gln351Ter)SNVPathogenicrs397515753GRCh37Chr 15, 48812952: 48812952
245FBN1NM_ 000138.4(FBN1): c.1192A> T (p.Arg398Ter)SNVPathogenicrs397515754GRCh37Chr 15, 48808515: 48808515
246FBN1NM_ 000138.4(FBN1): c.1095C> A (p.Cys365Ter)SNVPathogenicrs397515755GRCh37Chr 15, 48812908: 48812908
247FBN1NM_ 000138.4(FBN1): c.1148-2A> GSNVPathogenicrs397515756GRCh37Chr 15, 48808561: 48808561
248FBN1NM_ 000138.4(FBN1): c.1468+5G> ASNVPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
249FBN1NM_ 000138.4(FBN1): c.1546C> T (p.Arg516Ter)SNVPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
250FBN1NM_ 000138.4(FBN1): c.1561_ 1562delAG (p.Ser521Hisfs)deletionLikely pathogenicrs397515758GRCh37Chr 15, 48805772: 48805773
251FBN1NM_ 000138.4(FBN1): c.1601G> A (p.Cys534Tyr)SNVLikely pathogenicrs397515759GRCh37Chr 15, 48802354: 48802354
252FBN1NM_ 000138.4(FBN1): c.1837+1G> TSNVLikely pathogenicrs397515762GRCh37Chr 15, 48800778: 48800778
253FBN1NM_ 000138.4(FBN1): c.184C> T (p.Arg62Cys)SNVPathogenicrs25403GRCh37Chr 15, 48905270: 48905270
254FBN1NM_ 000138.4(FBN1): c.185G> A (p.Arg62His)SNVLikely pathogenicrs145942328GRCh37Chr 15, 48905269: 48905269
255FBN1NM_ 000138.4(FBN1): c.2242T> C (p.Cys748Arg)SNVLikely pathogenicrs397515765GRCh37Chr 15, 48789514: 48789514
256FBN1NM_ 000138.4(FBN1): c.2341T> C (p.Cys781Arg)SNVPathogenicrs397515766GRCh37Chr 15, 48788375: 48788375
257FBN1NM_ 000138.4(FBN1): c.239G> A (p.Cys80Tyr)SNVLikely pathogenicrs397515767GRCh37Chr 15, 48905215: 48905215
258FBN1NM_ 000138.4(FBN1): c.2407A> T (p.Lys803Ter)SNVPathogenicrs397515768GRCh37Chr 15, 48788309: 48788309
259FBN1NM_ 000138.4(FBN1): c.2412_ 2413delAT (p.Cys805Terfs)deletionPathogenicrs397515769GRCh37Chr 15, 48788303: 48788304
260FBN1NM_ 000138.4(FBN1): c.2447G> C (p.Cys816Ser)SNVLikely pathogenicrs397515770GRCh37Chr 15, 48787758: 48787758
261FBN1NM_ 000138.4(FBN1): c.2448C> G (p.Cys816Trp)SNVLikely pathogenicrs397515771GRCh37Chr 15, 48787757: 48787757
262FBN1NM_ 000138.4(FBN1): c.247+1G> ASNVPathogenicrs25404GRCh37Chr 15, 48905206: 48905206
263FBN1NM_ 000138.4(FBN1): c.2488T> G (p.Cys830Gly)SNVLikely pathogenicrs397515773GRCh37Chr 15, 48787717: 48787717
264FBN1NM_ 000138.4(FBN1): c.2489G> C (p.Cys830Ser)SNVLikely pathogenicrs397515774GRCh37Chr 15, 48787716: 48787716
265FBN1NM_ 000138.4(FBN1): c.2495G> A (p.Cys832Tyr)SNVPathogenic/ Likely pathogenicrs397515775GRCh37Chr 15, 48787710: 48787710
266FBN1NM_ 000138.4(FBN1): c.2496T> G (p.Cys832Trp)SNVLikely pathogenicrs397515776GRCh37Chr 15, 48787709: 48787709
267FBN1NM_ 000138.4(FBN1): c.268_ 269delGGinsC (p.Gly90Argfs)indelLikely pathogenicrs397515778GRCh37Chr 15, 48903002: 48903003
268FBN1NM_ 000138.4(FBN1): c.2691dupT (p.Lys898Terfs)duplicationLikely pathogenicrs397515779GRCh37Chr 15, 48786438: 48786438
269FBN1NM_ 000138.4(FBN1): c.2833delG (p.Ala945Profs)deletionLikely pathogenicrs397515781GRCh37Chr 15, 48784679: 48784679
270FBN1NM_ 000138.4(FBN1): c.2855-1G> ASNVPathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
271FBN1NM_ 000138.4(FBN1): c.299G> T (p.Cys100Phe)SNVLikely pathogenicrs397515782GRCh37Chr 15, 48902972: 48902972
272FBN1NM_ 000138.4(FBN1): c.3012C> G (p.Tyr1004Ter)SNVLikely pathogenicrs397515784GRCh37Chr 15, 48782118: 48782118
273FBN1NM_ 000138.4(FBN1): c.32_ 42delTGGGATTTACC (p.Leu11Argfs)deletionLikely pathogenicrs397515785GRCh37Chr 15, 48936925: 48936935
274FBN1NM_ 000138.4(FBN1): c.3164G> A (p.Cys1055Tyr)SNVPathogenicrs397515786GRCh37Chr 15, 48780609: 48780609
275FBN1NM_ 000138.4(FBN1): c.3274delG (p.Asp1092Thrfs)deletionPathogenicrs397515788GRCh37Chr 15, 48780373: 48780373
276FBN1NM_ 000138.4(FBN1): c.3337+1G> ASNVLikely pathogenicrs397515789GRCh37Chr 15, 48780309: 48780309
277FBN1NM_ 000138.4(FBN1): c.3392A> G (p.Asn1131Ser)SNVLikely pathogenicrs397515790GRCh37Chr 15, 48779580: 48779580
278FBN1NM_ 000138.4(FBN1): c.3413G> T (p.Cys1138Phe)SNVLikely pathogenicrs397515791GRCh37Chr 15, 48779559: 48779559
279FBN1NM_ 000138.4(FBN1): c.3463+1G> TSNVPathogenicrs397515792GRCh37Chr 15, 48779508: 48779508
280FBN1NM_ 000138.4(FBN1): c.368G> A (p.Cys123Tyr)SNVPathogenicrs397515794GRCh37Chr 15, 48892410: 48892410
281FBN1NM_ 000138.4(FBN1): c.3848A> C (p.Glu1283Ala)SNVLikely pathogenicrs397515796GRCh37Chr 15, 48773968: 48773968
282FBN1NM_ 000138.4(FBN1): c.3886T> C (p.Cys1296Arg)SNVLikely pathogenicrs397515797GRCh37Chr 15, 48773930: 48773930
283FBN1NM_ 000138.4(FBN1): c.4016G> C (p.Cys1339Ser)SNVLikely pathogenicrs397515798GRCh37Chr 15, 48766796: 48766796
284FBN1NM_ 000138.4(FBN1): c.4048T> A (p.Cys1350Ser)SNVLikely pathogenicrs397515799GRCh37Chr 15, 48766764: 48766764
285FBN1NM_ 000138.4(FBN1): c.4160A> G (p.Tyr1387Cys)SNVLikely pathogenicrs397515801GRCh37Chr 15, 48766502: 48766502
286FBN1NM_ 000138.4(FBN1): c.4222T> C (p.Cys1408Arg)SNVPathogenicrs397515802GRCh37Chr 15, 48764862: 48764862
287FBN1NM_ 000138.4(FBN1): c.4251_ 4259delTGGCCAGTG (p.Gly1418_ Cys1420del)deletionLikely pathogenicrs397515803GRCh37Chr 15, 48764825: 48764833
288FBN1NM_ 000138.4(FBN1): c.4259G> A (p.Cys1420Tyr)SNVLikely pathogenicrs397515804GRCh37Chr 15, 48764825: 48764825
289FBN1NM_ 000138.4(FBN1): c.4367G> A (p.Cys1456Tyr)SNVLikely pathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
290FBN1NM_ 000138.4(FBN1): c.4364T> G (p.Ile1455Ser)SNVLikely pathogenicrs397515807GRCh37Chr 15, 48762926: 48762926
291FBN1NM_ 000138.4(FBN1): c.4367G> C (p.Cys1456Ser)SNVPathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
292FBN1NM_ 000138.4(FBN1): c.4406G> C (p.Arg1469Pro)SNVLikely pathogenicrs397515808GRCh37Chr 15, 48762884: 48762884
293FBN1NM_ 000138.4(FBN1): c.4505G> A (p.Cys1502Tyr)SNVLikely pathogenicrs397515810GRCh37Chr 15, 48760686: 48760686
294FBN1NM_ 000138.4(FBN1): c.4531T> C (p.Cys1511Arg)SNVLikely pathogenicrs397515811GRCh37Chr 15, 48760660: 48760660
295FBN1NM_ 000138.4(FBN1): c.4567C> T (p.Arg1523Ter)SNVLikely pathogenicrs397515812GRCh38Chr 15, 48468427: 48468427
296FBN1NM_ 000138.4(FBN1): c.4615C> T (p.Arg1539Ter)SNVPathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
297FBN1NM_ 000138.4(FBN1): c.4781G> A (p.Gly1594Asp)SNVPathogenic/ Likely pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022
298FBN1NM_ 000138.4(FBN1): c.4937G> A (p.Cys1646Tyr)SNVLikely pathogenicrs397515814GRCh37Chr 15, 48757770: 48757770
299FBN1NM_ 000138.4(FBN1): c.493C> T (p.Arg165Ter)SNVPathogenicrs113905529GRCh37Chr 15, 48888525: 48888525
300FBN1NM_ 000138.4(FBN1): c.4942G> A (p.Asp1648Asn)SNVLikely pathogenicrs397515816GRCh37Chr 15, 48757765: 48757765
301FBN1NM_ 000138.4(FBN1): c.4955G> A (p.Cys1652Tyr)SNVPathogenicrs397515817GRCh37Chr 15, 48756206: 48756206
302FBN1NM_ 000138.4(FBN1): c.497G> C (p.Cys166Ser)SNVLikely pathogenicrs397515818GRCh37Chr 15, 48888521: 48888521
303FBN1NM_ 000138.4(FBN1): c.5066-1G> CSNVPathogenicrs397515819GRCh37Chr 15, 48755438: 48755438
304FBN1NM_ 000138.4(FBN1): c.5251C> T (p.Gln1751Ter)SNVLikely pathogenicrs397515820GRCh37Chr 15, 48752488: 48752488
305FBN1NM_ 000138.4(FBN1): c.529T> C (p.Cys177Arg)SNVLikely pathogenicrs363853GRCh37Chr 15, 48888489: 48888489
306FBN1NM_ 000138.4(FBN1): c.5368C> T (p.Arg1790Ter)SNVPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
307FBN1NM_ 000138.4(FBN1): c.5437C> T (p.Gln1813Ter)SNVLikely pathogenicrs397515821GRCh37Chr 15, 48744867: 48744867
308FBN1NM_ 000138.4(FBN1): c.5504G> A (p.Cys1835Tyr)SNVPathogenic/ Likely pathogenicrs111929350GRCh37Chr 15, 48744800: 48744800
309FBN1NM_ 000138.4(FBN1): c.5512G> T (p.Gly1838Cys)SNVPathogenicrs397515823GRCh37Chr 15, 48744792: 48744792
310FBN1NM_ 000138.4(FBN1): c.5588G> A (p.Gly1863Glu)SNVLikely pathogenicrs113086760GRCh38Chr 15, 48448851: 48448851
311FBN1NM_ 000138.4(FBN1): c.561delT (p.Phe187Leufs)deletionLikely pathogenicrs397515825GRCh37Chr 15, 48829983: 48829983
312FBN1NM_ 000138.4(FBN1): c.5721C> G (p.Asn1907Lys)SNVLikely pathogenicrs397515826GRCh37Chr 15, 48738970: 48738970
313FBN1NM_ 000138.4(FBN1): c.5747G> A (p.Cys1916Tyr)SNVLikely pathogenicrs397515827GRCh37Chr 15, 48738944: 48738944
314FBN1NM_ 000138.4(FBN1): c.5863C> T (p.Gln1955Ter)SNVPathogenicrs363807GRCh37Chr 15, 48737627: 48737627
315FBN1NM_ 000138.4(FBN1): c.5788+5G> ASNVPathogenicrs193922219GRCh37Chr 15, 48738898: 48738898
316FBN1NM_ 000138.4(FBN1): c.5840G> A (p.Cys1947Tyr)SNVLikely pathogenicrs397515828GRCh37Chr 15, 48737650: 48737650
317FBN1NM_ 000138.4(FBN1): c.5869C> T (p.Gln1957Ter)SNVLikely pathogenicrs397515829GRCh37Chr 15, 48737621: 48737621
318FBN1NM_ 000138.4(FBN1): c.6119G> A (p.Cys2040Tyr)SNVLikely pathogenicrs397515830GRCh37Chr 15, 48733962: 48733962
319FBN1NM_ 000138.4(FBN1): c.6289G> T (p.Glu2097Ter)SNVLikely pathogenicrs397515831GRCh37Chr 15, 48729989: 48729989
320FBN1NM_ 000138.4(FBN1): c.6379+1G> ASNVLikely pathogenicrs397515833GRCh37Chr 15, 48729518: 48729518
321FBN1NM_ 000138.4(FBN1): c.643C> T (p.Arg215Ter)SNVPathogenicrs111687884GRCh37Chr 15, 48829901: 48829901
322FBN1NM_ 000138.4(FBN1): c.6515_ 6516delTTinsG (p.Val2172Glyfs)indelLikely pathogenicrs397515834GRCh37Chr 15, 48726891: 48726892
323FBN1NM_ 000138.4(FBN1): c.6617-9_ 6617-8delinsAGindelLikely pathogenicrs397515835GRCh37Chr 15, 48725193: 48725194
324FBN1NM_ 000138.4(FBN1): c.6630T> G (p.Cys2210Trp)SNVLikely pathogenicrs397515836GRCh37Chr 15, 48725172: 48725172
325FBN1NM_ 000138.4(FBN1): c.6656T> C (p.Phe2219Ser)SNVLikely pathogenicrs397515837GRCh37Chr 15, 48725146: 48725146
326FBN1NM_ 000138.4(FBN1): c.6658C> T (p.Arg2220Ter)SNVPathogenic/ Likely pathogenicrs113001196GRCh37Chr 15, 48725144: 48725144
327FBN1NM_ 000138.4(FBN1): c.6841C> T (p.Gln2281Ter)SNVLikely pathogenicrs397515840GRCh37Chr 15, 48722898: 48722898
328FBN1NM_ 000138.4(FBN1): c.6920G> A (p.Cys2307Tyr)SNVLikely pathogenicrs137854457GRCh37Chr 15, 48720620: 48720620
329FBN1NM_ 000138.4(FBN1): c.7094G> A (p.Cys2365Tyr)SNVLikely pathogenicrs397515845GRCh37Chr 15, 48719874: 48719874
330FBN1NM_ 000138.4(FBN1): c.7167_ 7168delCT (p.Cys2390Serfs)deletionPathogenicrs397515846GRCh37Chr 15, 48719800: 48719801
331FBN1NM_ 000138.4(FBN1): c.7168T> C (p.Cys2390Arg)SNVLikely pathogenicrs397515847GRCh37Chr 15, 48719800: 48719800
332FBN1NM_ 000138.4(FBN1): c.7180C> T (p.Arg2394Ter)SNVPathogenicrs397515848GRCh37Chr 15, 48719788: 48719788
333FBN1NM_ 000138.4(FBN1): c.7453+1G> TSNVLikely pathogenicrs397515851GRCh37Chr 15, 48717565: 48717565
334FBN1NM_ 000138.4(FBN1): c.7497_ 7498delAT (p.Val2501Terfs)deletionLikely pathogenicrs397515852GRCh37Chr 15, 48714221: 48714222
335FBN1NM_ 000138.4(FBN1): c.7580A> C (p.Glu2527Ala)SNVLikely pathogenicrs397515853GRCh37Chr 15, 48713874: 48713874
336FBN1NM_ 000138.4(FBN1): c.7606G> A (p.Gly2536Arg)SNVPathogenicrs397515854GRCh37Chr 15, 48713848: 48713848
337FBN1NM_ 000138.4(FBN1): c.7955G> A (p.Cys2652Tyr)SNVPathogenic/ Likely pathogenicrs397515859GRCh37Chr 15, 48707829: 48707829
338FBN1NM_ 000138.4(FBN1): c.8267G> A (p.Trp2756Ter)SNVPathogenicrs397515861GRCh37Chr 15, 48703536: 48703536
339FBN1NM_ 000138.4(FBN1): c.8378A> G (p.Tyr2793Cys)SNVLikely pathogenicrs397515863GRCh37Chr 15, 48703425: 48703425
340FBN1NM_ 000138.4(FBN1): c.8483C> G (p.Ser2828Ter)SNVLikely pathogenicrs397515864GRCh37Chr 15, 48703320: 48703320
341FBN1NM_ 000138.4(FBN1): c.8600A> C (p.Gln2867Pro)SNVLikely pathogenicrs397515865GRCh37Chr 15, 48703203: 48703203
342FBN1NM_ 000138.4(FBN1): c.8605_ 8606delTT (p.Leu2869Alafs)deletionLikely pathogenicrs397515866GRCh37Chr 15, 48703197: 48703198
343FBN1NM_ 000138.4(FBN1): c.958dupT (p.Tyr320Leufs)duplicationPathogenicrs397515867GRCh37Chr 15, 48818357: 48818357

Copy number variations for Marfan Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
192862154480000049500000DeletionFBN1Marfan syndrome

Expression for genes affiliated with Marfan Syndrome

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Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for genes affiliated with Marfan Syndrome

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Pathways related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 46)
idSuper pathwaysScoreTop Affiliating Genes
19.9TGFBR1, TGFBR2
29.3COL1A2, DCN, MMP2
39.1ACTA2, AGTR1, TGFBR1
49.1TGFB1, TGFBR1, TGFBR2
59.1TGFB1, TGFBR1, TGFBR2
6
Show member pathways
9.1TGFB1, TGFBR1, TGFBR2
7
Show member pathways
9.1TGFB1, TGFBR1, TGFBR2
89.1TGFB1, TGFBR1, TGFBR2
99.1TGFB1, TGFBR1, TGFBR2
10
Show member pathways
9.1TGFB1, TGFBR1, TGFBR2
11
Show member pathways
9.1TGFB1, TGFBR1, TGFBR2
129.1TGFB1, TGFBR1, TGFBR2
13
Show member pathways
9.1TGFB1, TGFBR1, TGFBR2
149.1TGFB1, TGFBR1, TGFBR2
159.1TGFB1, TGFBR1, TGFBR2
16
Show member pathways
9.1TGFB1, TGFBR1, TGFBR2
17
Show member pathways
9.1TGFB1, TGFBR1, TGFBR2
188.9COL1A2, MMP2, TGFB1
19
Show member pathways
8.8MMP2, TGFB1, TGFBR1
20
Show member pathways
8.8COL1A2, TGFB1, TGFBR1, TGFBR2
218.7BMP6, TGFB1, TGFBR1, TGFBR2
22
Show member pathways
8.6EGF, TGFB1, TGFBR1, TGFBR2
238.6EGF, TGFB1, TGFBR1, TGFBR2
24
Show member pathways
8.6EGF, TGFB1, TGFBR1, TGFBR2
25
Show member pathways
8.6EGF, TGFB1, TGFBR1, TGFBR2
26
Show member pathways
8.6EGF, TGFB1, TGFBR1, TGFBR2
27
Show member pathways
8.6ELN, FBN1, FBN2, LTBP2, TGFB1
288.6BMP6, EGF, LTBP2, TGFB1
298.5AGTR1, FBN1, FBN2, LTBP2, TGFBR1, TGFBR2
308.4EGF, ELN, MMP2, TGFB1
31
Show member pathways
8.4BMP6, DCN, TGFB1, TGFBR1, TGFBR2
328.1EGF, MMP2, TGFB1, TGFBR1, TGFBR2
33
Show member pathways
8.1EGF, MMP2, TGFB1, TGFBR1, TGFBR2
34
Show member pathways
8.1EGF, MMP2, TGFB1, TGFBR1, TGFBR2
358.1ACTA2, BMP6, DCN, EGF, TGFB1
367.8ACTA2, BMP6, MMP2, TGFB1, TGFBR1, TGFBR2
377.7AGTR1, COL1A2, MMP2, TGFB1, TGFBR1, TGFBR2
38
Show member pathways
7.6AGTR1, BMP6, EGF, LTBP2, TGFB1, TGFBR1
39
Show member pathways
7.6ACTA2, BMP6, EGF, LTBP2, TGFB1, TGFBR1
407.5AGTR1, EGF, MMP2, TGFB1, TGFBR1, TGFBR2
41
Show member pathways
7.5COL1A2, DCN, ELN, FBN1, FBN2, LTBP2
42
Show member pathways
7.4AGTR1, BMP6, EGF, LTBP2, TGFB1, TGFBR1
43
Show member pathways
7.1ACTA2, BMP6, EGF, LTBP2, MMP2, TGFB1
44
Show member pathways
6.8ACTA2, BMP6, COL1A2, EGF, ELN, FBN1
45
Show member pathways
6.6ACTA2, COL1A2, EGF, ELN, FBN1, FBN2
46
Show member pathways
6.5ACTA2, BMP6, COL1A2, EGF, ELN, FBN1

GO Terms for genes affiliated with Marfan Syndrome

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Cellular components related to Marfan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:000152710.6FBN1, FBN2
2transforming growth factor beta receptor complexGO:00700229.9TGFBR1, TGFBR2
3receptor complexGO:00432359.5EGF, TGFBR1, TGFBR2
4extracellular matrixGO:00310128.5COL1A2, DCN, FBN1, FBN2, LTBP2, MMP2
5proteinaceous extracellular matrixGO:00055788.0COL1A2, DCN, ELN, FBN1, FBN2, LTBP2
6extracellular spaceGO:00056157.5ACTA2, BMP6, COL1A2, DCN, EGF, FBN1
7extracellular regionGO:00055767.4BMP6, COL1A2, DCN, EGF, ELN, FBN1

Biological processes related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1embryonic eye morphogenesisGO:004804810.7FBN1, FBN2
2regulation of cellular response to growth factor stimulusGO:009028710.6FBN1, FBN2
3sequestering of TGFbeta in extracellular matrixGO:003558310.6FBN1, FBN2
4positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.5TGFBR1, TGFBR2
5transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.4TGFBR1, TGFBR2
6bone trabecula formationGO:006034610.4FBN2, MMP2
7animal organ morphogenesisGO:000988710.3DCN, ELN, TGFBR2
8cellular response to insulin-like growth factor stimulusGO:199031410.1FBN1, TGFB1
9common-partner SMAD protein phosphorylationGO:000718210.1TGFB1, TGFBR2
10myeloid dendritic cell differentiationGO:004301110.1TGFB1, TGFBR2
11germ cell migrationGO:000835410.0TGFB1, TGFBR1
12skeletal system developmentGO:00015019.9BMP6, COL1A2, FBN1, TGFBR1
13cellular response to transforming growth factor beta stimulusGO:00715609.8FBN1, TGFB1, TGFBR1
14extracellular matrix organizationGO:00301989.7COL1A2, DCN, ELN, FBN1, FBN2
15negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.7TGFB1, TGFBR1, TGFBR2
16pathway-restricted SMAD protein phosphorylationGO:00603899.7TGFB1, TGFBR1, TGFBR2
17positive regulation of epithelial to mesenchymal transitionGO:00107189.7TGFB1, TGFBR1, TGFBR2
18response to cholesterolGO:00707239.7TGFB1, TGFBR1, TGFBR2
19positive regulation of cellular protein metabolic processGO:00322709.7AGTR1, TGFB1
20positive regulation of bone mineralizationGO:00305019.6BMP6, FBN2, TGFB1
21positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6BMP6, TGFB1, TGFBR1
22positive regulation of SMAD protein import into nucleusGO:00603919.6BMP6, TGFB1, TGFBR1
23heart developmentGO:00075079.5FBN1, TGFB1, TGFBR1, TGFBR2
24extracellular matrix disassemblyGO:00226179.5DCN, ELN, FBN1, FBN2, MMP2
25kidney developmentGO:00018229.3AGTR1, BMP6, DCN, FBN1, TGFBR1
26transforming growth factor beta receptor signaling pathwayGO:00071799.1COL1A2, LTBP2, TGFB1, TGFBR1, TGFBR2
27wound healingGO:00420608.7DCN, TGFB1, TGFBR1, TGFBR2

Molecular functions related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix constituent conferring elasticityGO:003002310.5FBN1, FBN2
2transforming growth factor beta bindingGO:005043110.3TGFBR1, TGFBR2
3transforming growth factor beta-activated receptor activityGO:000502410.3TGFBR1, TGFBR2
4transmembrane receptor protein serine/threonine kinase activityGO:000467510.2TGFBR1, TGFBR2
5SMAD bindingGO:004633210.1COL1A2, TGFBR1, TGFBR2
6extracellular matrix structural constituentGO:00052019.9COL1A2, ELN, FBN1, FBN2
7type I transforming growth factor beta receptor bindingGO:00347139.6TGFB1, TGFBR2
8type II transforming growth factor beta receptor bindingGO:00051149.3TGFB1, TGFBR1

Sources for Marfan Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet